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DisorderList,Disorder,OrphaCode,ExpertLink,Name,DisorderType,DisorderType_name,DisorderGroup,DisorderGroup_name,PrevalenceList
6043,17601,166024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024,"Multiple epiphyseal dysplasia, Al-Gazali type",21394,Disease,36547,Disorder,2
6043,2,58,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58,Alexander disease,21394,Disease,36547,Disorder,2
6043,17603,166032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032,"Multiple epiphyseal dysplasia, with miniepiphyses",21394,Disease,36547,Disorder,2
6043,3,61,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61,Alpha-mannosidosis,21394,Disease,36547,Disorder,7
6043,17602,166029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",21394,Disease,36547,Disorder,2
6043,17605,166038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038,"Metaphyseal chondrodysplasia, Kaitila type",21394,Disease,36547,Disorder,2
6043,5,93,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93,Aspartylglucosaminuria,21394,Disease,36547,Disorder,4
6043,17604,166035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,6,585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585,Multiple sulfatase deficiency,21394,Disease,36547,Disorder,2
6043,7,118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118,Beta-mannosidosis,21394,Disease,36547,Disorder,5
6043,17609,166068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166068,Pontocerebellar hypoplasia type 5,21401,Malformation syndrome,36547,Disorder,2
6043,8,141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141,Canavan disease,21394,Disease,36547,Disorder,3
6043,17608,166063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063,Pontocerebellar hypoplasia type 4,21401,Malformation syndrome,36547,Disorder,2
6043,17611,166078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078,Von Willebrand disease type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17610,166073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073,Pontocerebellar hypoplasia type 6,21401,Malformation syndrome,36547,Disorder,2
6043,11,213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213,Cystinosis,21394,Disease,36547,Disorder,10
6043,17613,166084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084,Von Willebrand disease type 2A,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12,333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333,Farber disease,21394,Disease,36547,Disorder,3
6043,17612,166081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081,Von Willebrand disease type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13,349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349,Fucosidosis,21394,Disease,36547,Disorder,3
6043,17615,166090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090,Von Willebrand disease type 2M,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14,365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365,Glycogen storage disease due to acid maltase deficiency,21394,Disease,36547,Disorder,12
6043,17614,166087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087,Von Willebrand disease type 2B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,15,366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366,Glycogen storage disease due to glycogen debranching enzyme deficiency,21394,Disease,36547,Disorder,2
6043,17616,166093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093,Von Willebrand disease type 2N,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17,368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,21394,Disease,36547,Disorder,1
6043,17617,166096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096,Von Willebrand disease type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,16,367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367,Glycogen storage disease due to glycogen branching enzyme deficiency,21394,Disease,36547,Disorder,2
6043,19,371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371,Glycogen storage disease due to muscle phosphofructokinase deficiency,21394,Disease,36547,Disorder,2
6043,17619,166105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105,FASTKD2-related infantile mitochondrial encephalomyopathy,21394,Disease,36547,Disorder,2
6043,18,369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,21394,Disease,36547,Disorder,1
6043,21,447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447,Paroxysmal nocturnal hemoglobinuria,21394,Disease,36547,Disorder,3
6043,17620,166108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108,"Intellectual disability, Birk-Barel type",21394,Disease,36547,Disorder,2
6043,17621,166113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113,Bazex syndrome,21394,Disease,36547,Disorder,2
6043,23,535,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535,Rare cutaneous lupus erythematosus,21436,Clinical group,36540,Group of disorders,4
6043,22,487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487,Krabbe disease,21394,Disease,36547,Disorder,12
6043,17624,166260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260,Dentinogenesis imperfecta type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17625,166265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265,Dentinogenesis imperfecta type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,24,583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583,Mucopolysaccharidosis type 6,21394,Disease,36547,Disorder,26
6043,17626,166272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272,Odontochondrodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,27,576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576,Mucolipidosis type II,21394,Disease,36547,Disorder,8
6043,17627,166277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,26,812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812,Sialidosis type 1,21394,Disease,36547,Disorder,2
6043,17628,166282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282,Familial sick sinus syndrome,21394,Disease,36547,Disorder,2
6043,29,578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578,Mucolipidosis type IV,21394,Disease,36547,Disorder,3
6043,17629,166286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286,Porokeratotic eccrine ostial and dermal duct nevus,21394,Disease,36547,Disorder,2
6043,28,577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577,Mucolipidosis type III,21394,Disease,36547,Disorder,4
6043,17630,166291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291,Dirofilariasis,21394,Disease,36547,Disorder,1
6043,17635,166308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308,Benign infantile focal epilepsy with midline spikes and waves during sleep,21394,Disease,36547,Disorder,2
6043,17634,166305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305,Benign infantile seizures associated with mild gastroenteritis,21394,Disease,36547,Disorder,2
6043,32,2912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912,Poliomyelitis,21394,Disease,36547,Disorder,2
6043,38,796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796,Sandhoff disease,21394,Disease,36547,Disorder,9
6043,39,801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801,Scleroderma,21436,Clinical group,36540,Group of disorders,5
6043,42,461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461,Recessive X-linked ichthyosis,21394,Disease,36547,Disorder,3
6043,40,584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584,Mucopolysaccharidosis type 7,21394,Disease,36547,Disorder,8
6043,44,881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881,Turner syndrome,21401,Malformation syndrome,36547,Disorder,23
6043,45,95,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95,Friedreich ataxia,21394,Disease,36547,Disorder,17
6043,51,848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848,Beta-thalassemia,21394,Disease,36547,Disorder,4
6043,50,846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846,Alpha-thalassemia,21394,Disease,36547,Disorder,2
6043,49,586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586,Cystic fibrosis,21394,Disease,36547,Disorder,64
6043,55,262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262,Duchenne and Becker muscular dystrophy,21436,Clinical group,36540,Group of disorders,3
6043,59,261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261,Emery-Dreifuss muscular dystrophy,21394,Disease,36547,Disorder,1
6043,63,550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550,MELAS,21394,Disease,36547,Disorder,5
6043,62,269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269,Facioscapulohumeral dystrophy,21394,Disease,36547,Disorder,6
6043,61,480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480,Kearns-Sayre syndrome,21394,Disease,36547,Disorder,3
6043,68,593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593,Myofibrillar myopathy,36561,Category,36540,Group of disorders,1
6043,64,551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551,MERRF,21394,Disease,36547,Disorder,1
6043,65,597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597,Central core disease,21394,Disease,36547,Disorder,2
6043,66,607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607,Nemaline myopathy,21436,Clinical group,36540,Group of disorders,2
6043,17538,163746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,21394,Disease,36547,Disorder,2
6043,76,684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684,Paramyotonia congenita of Von Eulenburg,21394,Disease,36547,Disorder,4
6043,77,273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273,Steinert myotonic dystrophy,21394,Disease,36547,Disorder,16
6043,17551,163937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937,"X-linked intellectual disability, Najm type",21394,Disease,36547,Disorder,2
6043,17550,163934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934,Atopic keratoconjunctivitis,21394,Disease,36547,Disorder,1
6043,75,614,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614,Thomsen and Becker disease,21394,Disease,36547,Disorder,6
6043,17546,163921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921,Posttransplant acute limbic encephalitis,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,17556,163966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",21394,Disease,36547,Disorder,2
6043,17557,163971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971,"X-linked intellectual disability, Cilliers type",21394,Disease,36547,Disorder,2
6043,17558,163976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976,"X-linked intellectual disability, Van Esch type",21401,Malformation syndrome,36547,Disorder,2
6043,17559,163979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979,X-linked intellectual disability-craniofacioskeletal syndrome,21394,Disease,36547,Disorder,2
6043,17554,163956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956,"X-linked intellectual disability, Nascimento type",21394,Disease,36547,Disorder,2
6043,17555,163961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961,X-linked cerebral-cerebellar-coloboma syndrome,21394,Disease,36547,Disorder,2
6043,94,324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324,Fabry disease,21394,Disease,36547,Disorder,10
6043,17561,163985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985,Hyperekplexia-epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,91,778,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778,Rett syndrome,21394,Disease,36547,Disorder,11
6043,90,72,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72,Angelman syndrome,21401,Malformation syndrome,36547,Disorder,12
6043,102,307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307,Juvenile myoclonic epilepsy,21394,Disease,36547,Disorder,1
6043,101,1941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941,Juvenile absence epilepsy,21394,Disease,36547,Disorder,2
6043,99,892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892,Von Hippel-Lindau disease,21394,Disease,36547,Disorder,5
6043,97,731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731,Autosomal recessive polycystic kidney disease,21394,Disease,36547,Disorder,2
6043,110,138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138,CHARGE syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,109,558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558,Marfan syndrome,21394,Disease,36547,Disorder,6
6043,17579,165805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805,Familial mesial temporal lobe epilepsy with febrile seizures,21394,Disease,36547,Disorder,2
6043,106,803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803,Amyotrophic lateral sclerosis,21394,Disease,36547,Disorder,33
6043,104,100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100,Ataxia-telangiectasia,21394,Disease,36547,Disorder,8
6043,105,733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733,Familial adenomatous polyposis,21394,Disease,36547,Disorder,12
6043,118,399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399,Huntington disease,21394,Disease,36547,Disorder,31
6043,117,501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501,Lafora disease,21394,Disease,36547,Disorder,4
6043,116,870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870,Down syndrome,21401,Malformation syndrome,36547,Disorder,24
6043,112,512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512,Metachromatic leukodystrophy,21394,Disease,36547,Disorder,12
6043,17598,166011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011,"Multiple epiphyseal dysplasia, Beighton type",21394,Disease,36547,Disorder,2
6043,126,567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567,22q11.2 deletion syndrome,21401,Malformation syndrome,36547,Disorder,6
6043,17599,166016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016,"Multiple epiphyseal dysplasia, Lowry type",21394,Disease,36547,Disorder,2
6043,125,232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232,Sickle cell anemia,21394,Disease,36547,Disorder,11
6043,124,536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536,Systemic lupus erythematosus,21394,Disease,36547,Disorder,8
6043,123,534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534,Oculocerebrorenal syndrome of Lowe,21401,Malformation syndrome,36547,Disorder,3
6043,122,790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790,Retinoblastoma,21394,Disease,36547,Disorder,29
6043,121,652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652,Multiple endocrine neoplasia type 1,21394,Disease,36547,Disorder,1
6043,120,908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908,Fragile X syndrome,21401,Malformation syndrome,36547,Disorder,7
6043,137,3099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099,Rheumatic fever,21394,Disease,36547,Disorder,9
6043,139,739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739,Prader-Willi syndrome,21394,Disease,36547,Disorder,15
6043,142,47,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47,X-linked agammaglobulinemia,21450,Clinical subtype,36554,Subtype of disorder,19
6043,131,580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580,Mucopolysaccharidosis type 2,21394,Disease,36547,Disorder,26
6043,132,579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579,Mucopolysaccharidosis type 1,21394,Disease,36547,Disorder,26
6043,134,905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905,Wilson disease,21394,Disease,36547,Disorder,11
6043,155,792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792,X-linked retinoschisis,21401,Malformation syndrome,36547,Disorder,5
6043,17500,163525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525,Subacute cutaneous lupus erythematosus,21394,Disease,36547,Disorder,1
6043,158,827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827,Stargardt disease,21394,Disease,36547,Disorder,1
6043,144,906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906,Wiskott-Aldrich syndrome,21394,Disease,36547,Disorder,7
6043,145,904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904,Williams syndrome,21401,Malformation syndrome,36547,Disorder,5
6043,147,280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280,Wolf-Hirschhorn syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,148,15,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15,Achondroplasia,21394,Disease,36547,Disorder,13
6043,149,96,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96,Ataxia with vitamin E deficiency,21394,Disease,36547,Disorder,1
6043,150,101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101,Dentatorubral pallidoluysian atrophy,21394,Disease,36547,Disorder,3
6043,151,783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783,Rubinstein-Taybi syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,17514,163649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649,"Spondyloepiphyseal dysplasia, Nishimura type",21394,Disease,36547,Disorder,2
6043,171,631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631,Non-acquired isolated growth hormone deficiency,21394,Disease,36547,Disorder,1
6043,170,276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,21394,Disease,36547,Disorder,1
6043,17515,163654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654,"Spondyloepiphyseal dysplasia, Cantu type",21394,Disease,36547,Disorder,2
6043,169,481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481,Kennedy disease,21394,Disease,36547,Disorder,4
6043,168,664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664,Ornithine transcarbamylase deficiency,21394,Disease,36547,Disorder,7
6043,17518,163668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668,"Spondyloepiphyseal dysplasia, MacDermot type",21401,Malformation syndrome,36547,Disorder,2
6043,17516,163662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662,"Spondyloepiphyseal dysplasia, Reardon type",21394,Disease,36547,Disorder,2
6043,173,394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394,Classic homocystinuria,21394,Disease,36547,Disorder,9
6043,17517,163665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",21394,Disease,36547,Disorder,2
6043,172,508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508,Leprechaunism,21401,Malformation syndrome,36547,Disorder,2
6043,162,436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436,Hypophosphatasia,21394,Disease,36547,Disorder,1
6043,17507,163596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596,Hb Bart's hydrops fetalis,21450,Clinical subtype,36554,Subtype of disorder,3
6043,161,429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429,Hypochondroplasia,21394,Disease,36547,Disorder,1
6043,160,437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437,Hypophosphatemic rickets,21436,Clinical group,36540,Group of disorders,1
6043,167,104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104,Leber hereditary optic neuropathy,21394,Disease,36547,Disorder,6
6043,164,2182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,21450,Clinical subtype,36554,Subtype of disorder,2
6043,17509,163634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634,Maffucci syndrome,21394,Disease,36547,Disorder,2
6043,185,636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636,Neurofibromatosis type 1,21394,Disease,36547,Disorder,10
6043,17528,163703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703,Febrile infection-related epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,190,649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649,Norrie disease,21401,Malformation syndrome,36547,Disorder,2
6043,17533,163727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,21394,Disease,36547,Disorder,2
6043,17522,163684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,17521,163681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681,Cortical dysplasia-focal epilepsy syndrome,21394,Disease,36547,Disorder,1
6043,176,379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379,Chronic granulomatous disease,21394,Disease,36547,Disorder,27
6043,177,16,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16,Blue cone monochromatism,21394,Disease,36547,Disorder,2
6043,182,644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644,NARP syndrome,21394,Disease,36547,Disorder,1
6043,183,637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637,Neurofibromatosis type 2,21394,Disease,36547,Disorder,4
6043,17526,163696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696,Action myoclonus-renal failure syndrome,21394,Disease,36547,Disorder,2
6043,180,181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181,X-linked hypohidrotic ectodermal dysplasia,21443,Etiological subtype,36554,Subtype of disorder,3
6043,17525,163693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693,2p21 microdeletion syndrome,21394,Disease,36547,Disorder,2
6043,17524,163690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690,Hypotonia-cystinuria syndrome,21394,Disease,36547,Disorder,2
6043,205,337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337,Fibrodysplasia ossificans progressiva,21394,Disease,36547,Disorder,6
6043,207,377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377,Gorlin syndrome,21401,Malformation syndrome,36547,Disorder,7
6043,206,648,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648,Noonan syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,201,281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281,Monosomy 5p,21401,Malformation syndrome,36547,Disorder,3
6043,203,752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752,"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",21394,Disease,36547,Disorder,2
6043,202,214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214,Cystinuria,21394,Disease,36547,Disorder,9
6043,197,510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510,Lesch-Nyhan syndrome,21394,Disease,36547,Disorder,10
6043,196,524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524,Li-Fraumeni syndrome,21394,Disease,36547,Disorder,3
6043,193,699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699,Pearson syndrome,21394,Disease,36547,Disorder,2
6043,192,640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640,Hereditary neuropathy with liability to pressure palsies,21401,Malformation syndrome,36547,Disorder,2
6043,194,60,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60,Alpha-1-antitrypsin deficiency,21394,Disease,36547,Disorder,6
6043,220,895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895,Waardenburg syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,221,896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896,Waardenburg syndrome type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,218,857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857,Townes-Brocks syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,219,894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894,Waardenburg syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,212,682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682,Hyperkalemic periodic paralysis,21394,Disease,36547,Disorder,3
6043,215,800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800,Schwartz-Jampel syndrome,21394,Disease,36547,Disorder,2
6043,209,628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628,Diastrophic dwarfism,21394,Disease,36547,Disorder,3
6043,210,673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673,Malaria,21394,Disease,36547,Disorder,31
6043,211,681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681,Hypokalemic periodic paralysis,21394,Disease,36547,Disorder,3
6043,238,126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126,Blepharophimosis-ptosis-epicanthus inversus syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,237,107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107,BOR syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,236,774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774,Hereditary hemorrhagic telangiectasia,21394,Disease,36547,Disorder,7
6043,235,794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794,Saethre-Chotzen syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,234,710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710,Pfeiffer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,233,2869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869,Peutz-Jeghers syndrome,21394,Disease,36547,Disorder,3
6043,230,893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893,WAGR syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,225,912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912,Zellweger syndrome,21394,Disease,36547,Disorder,2
6043,254,50,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50,Aicardi syndrome,21394,Disease,36547,Disorder,4
6043,255,53,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53,Albers-Schönberg osteopetrosis,21401,Malformation syndrome,36547,Disorder,4
6043,252,14,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14,Abetalipoproteinemia,21394,Disease,36547,Disorder,2
6043,253,52,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52,Alagille syndrome,21401,Malformation syndrome,36547,Disorder,5
6043,249,167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167,Chédiak-Higashi syndrome,21394,Disease,36547,Disorder,2
6043,246,195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195,Cat-eye syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,244,207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207,Crouzon disease,21401,Malformation syndrome,36547,Disorder,3
6043,242,205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205,Crigler-Najjar syndrome,21394,Disease,36547,Disorder,2
6043,17459,160148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148,Cap polyposis,21394,Disease,36547,Disorder,2
6043,243,201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201,Cowden syndrome,21394,Disease,36547,Disorder,2
6043,240,192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192,Coffin-Lowry syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,275,2442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442,X-linked lymphoproliferative disease,21436,Clinical group,36540,Group of disorders,1
6043,17872,169802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802,Severe hemophilia A,21450,Clinical subtype,36554,Subtype of disorder,1
6043,279,562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562,McCune-Albright syndrome,21394,Disease,36547,Disorder,1
6043,278,565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565,Menkes disease,21394,Disease,36547,Disorder,4
6043,277,2443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,36561,Category,36540,Group of disorders,1
6043,283,474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474,Jeune syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,282,540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540,Familial hemophagocytic lymphohistiocytosis,21394,Disease,36547,Disorder,2
6043,281,568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568,"Microphthalmia, Lenz type",21401,Malformation syndrome,36547,Disorder,1
6043,280,564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564,Meckel syndrome,21401,Malformation syndrome,36547,Disorder,6
6043,287,289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289,Ellis Van Creveld syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,284,258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258,Laminin subunit alpha 2-related congenital muscular dystrophy,21401,Malformation syndrome,36547,Disorder,2
6043,258,1247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247,Schistosomiasis,21394,Disease,36547,Disorder,2
6043,259,112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112,Bartter syndrome,21394,Disease,36547,Disorder,4
6043,257,1646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646,Partial chromosome Y deletion,21401,Malformation syndrome,36547,Disorder,2
6043,17863,169464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464,Primary CD59 deficiency,21394,Disease,36547,Disorder,2
6043,263,99,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99,Autosomal dominant cerebellar ataxia,36561,Category,36540,Group of disorders,6
6043,260,116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116,Beckwith-Wiedemann syndrome,21401,Malformation syndrome,36547,Disorder,6
6043,261,87,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87,Apert syndrome,21401,Malformation syndrome,36547,Disorder,9
6043,17866,169615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169615,Idiopathic central precocious puberty,21443,Etiological subtype,36554,Subtype of disorder,1
6043,264,97,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97,Familial paroxysmal ataxia,21394,Disease,36547,Disorder,2
6043,265,313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313,Lamellar ichthyosis,21394,Disease,36547,Disorder,3
6043,17871,169799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799,Mild hemophilia B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17870,169796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796,Moderately severe hemophilia B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17869,169793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793,Severe hemophilia B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,305,1000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000,Ocular albinism with late-onset sensorineural deafness,21394,Disease,36547,Disorder,2
6043,304,999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999,Ermine phenotype,21401,Malformation syndrome,36547,Disorder,2
6043,17906,171430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430,Severe congenital nemaline myopathy,21394,Disease,36547,Disorder,1
6043,17907,171433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433,Intermediate nemaline myopathy,21394,Disease,36547,Disorder,1
6043,17908,171436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436,Typical nemaline myopathy,21394,Disease,36547,Disorder,1
6043,17909,171439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439,Childhood-onset nemaline myopathy,21394,Disease,36547,Disorder,1
6043,311,55,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55,Oculocutaneous albinism,21436,Clinical group,36540,Group of disorders,3
6043,17910,171442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442,Adult-onset nemaline myopathy,21394,Disease,36547,Disorder,1
6043,17912,171607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607,X-linked spastic paraplegia type 34,21394,Disease,36547,Disorder,2
6043,313,2771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771,Bruck syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17913,171612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612,Autosomal dominant spastic paraplegia type 37,21394,Disease,36547,Disorder,2
6043,17914,171617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617,Autosomal dominant spastic paraplegia type 38,21394,Disease,36547,Disorder,2
6043,315,1349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,21401,Malformation syndrome,36547,Disorder,2
6043,17915,171622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622,Autosomal recessive spastic paraplegia type 32,21394,Disease,36547,Disorder,2
6043,17916,171629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629,Autosomal recessive spastic paraplegia type 35,21394,Disease,36547,Disorder,2
6043,293,861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861,Treacher-Collins syndrome,21401,Malformation syndrome,36547,Disorder,6
6043,294,308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308,Unverricht-Lundborg disease,21401,Malformation syndrome,36547,Disorder,4
6043,297,1991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991,Cleft lip with or without cleft palate,21436,Clinical group,36540,Group of disorders,3
6043,299,199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199,Cornelia de Lange syndrome,21401,Malformation syndrome,36547,Disorder,5
6043,301,2162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162,Holoprosencephaly,21401,Malformation syndrome,36547,Disorder,8
6043,302,930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930,Idiopathic achalasia,21394,Disease,36547,Disorder,13
6043,303,998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998,Albinism-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,343,1727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727,22q11.2 duplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,17815,169079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079,Cernunnos-XLF deficiency,21394,Disease,36547,Disorder,2
6043,340,1715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715,Trisomy 18p,21401,Malformation syndrome,36547,Disorder,2
6043,339,3380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380,Trisomy 18,21401,Malformation syndrome,36547,Disorder,25
6043,17810,168984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984,CLAPO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17811,168999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999,Malignant melanoma of the mucosa,21394,Disease,36547,Disorder,5
6043,337,3378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378,Trisomy 13,21401,Malformation syndrome,36547,Disorder,21
6043,17820,169100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100,Immunodeficiency due to CD25 deficiency,21394,Disease,36547,Disorder,2
6043,17821,169105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105,Good syndrome,21394,Disease,36547,Disorder,2
6043,17818,169090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090,Combined immunodeficiency due to CRAC channel dysfunction,21394,Disease,36547,Disorder,2
6043,346,236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236,Trisomy 9p,21401,Malformation syndrome,36547,Disorder,2
6043,17819,169095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095,Severe combined immunodeficiency due to FOXN1 deficiency,21394,Disease,36547,Disorder,2
6043,17817,169085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,21394,Disease,36547,Disorder,1
6043,17798,168829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829,Primary peritoneal carcinoma,21394,Disease,36547,Disorder,1
6043,17797,168816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816,Peritoneal cystic mesothelioma,21394,Disease,36547,Disorder,2
6043,324,753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",21394,Disease,36547,Disorder,1
6043,325,868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868,Triose phosphate-isomerase deficiency,21394,Disease,36547,Disorder,2
6043,17796,168811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811,Malignant peritoneal mesothelioma,21394,Disease,36547,Disorder,3
6043,323,218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218,Darier disease,21394,Disease,36547,Disorder,4
6043,17793,168796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796,"Heart-hand syndrome, Slovenian type",21401,Malformation syndrome,36547,Disorder,2
6043,321,1465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465,Coffin-Siris syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17792,168782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782,Childhood disintegrative disorder,21394,Disease,36547,Disorder,1
6043,334,1642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642,Distal monosomy 9p,21401,Malformation syndrome,36547,Disorder,2
6043,17807,168966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966,Composite lymphoma,21394,Disease,36547,Disorder,1
6043,17806,168960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960,Refractory anemia with excess blasts in transformation,21394,Disease,36547,Disorder,1
6043,335,8,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8,"47,XYY syndrome",21401,Malformation syndrome,36547,Disorder,4
6043,17805,168956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956,Hypereosinophilic syndrome,21436,Clinical group,36540,Group of disorders,4
6043,330,1600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600,Monosomy 18q,21401,Malformation syndrome,36547,Disorder,1
6043,328,1598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598,Monosomy 18p,21394,Disease,36547,Disorder,2
6043,373,2773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,372,2772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,369,2609,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609,Isolated complex I deficiency,21394,Disease,36547,Disorder,1
6043,370,626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626,Large congenital melanocytic nevus,21394,Disease,36547,Disorder,1
6043,381,773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773,Refsum disease,21394,Disease,36547,Disorder,2
6043,378,11,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11,Pentasomy X,21401,Malformation syndrome,36547,Disorder,1
6043,357,370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370,Glycogen storage disease due to phosphorylase kinase deficiency,21436,Clinical group,36540,Group of disorders,2
6043,358,385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385,Neurodegeneration with brain iron accumulation,21436,Clinical group,36540,Group of disorders,1
6043,17830,169157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,21394,Disease,36547,Disorder,2
6043,353,1947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947,"Progressive epilepsy-intellectual disability syndrome, Finnish type",21394,Disease,36547,Disorder,1
6043,355,352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352,Galactosemia,36561,Category,36540,Group of disorders,4
6043,364,596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596,X-linked centronuclear myopathy,21394,Disease,36547,Disorder,3
6043,367,610,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610,Bethlem myopathy,21394,Disease,36547,Disorder,2
6043,17833,169186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186,Autosomal recessive centronuclear myopathy,21394,Disease,36547,Disorder,1
6043,360,464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464,Incontinentia pigmenti,21401,Malformation syndrome,36547,Disorder,3
6043,361,3307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307,Tetrasomy 18p,21401,Malformation syndrome,36547,Disorder,1
6043,17834,169189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189,Autosomal dominant centronuclear myopathy,21394,Disease,36547,Disorder,1
6043,410,44,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44,Neonatal adrenoleukodystrophy,21394,Disease,36547,Disorder,2
6043,411,56,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56,Alkaptonuria,21394,Disease,36547,Disorder,8
6043,408,963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963,Acromegaly,21394,Disease,36547,Disorder,21
6043,415,1059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059,Blue rubber bleb nevus,21401,Malformation syndrome,36547,Disorder,2
6043,412,1006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006,Alopecia antibody deficiency,21394,Disease,36547,Disorder,2
6043,413,1046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046,Lethal hemolytic anemia-genital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,402,22,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22,Succinic semialdehyde dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,403,29,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29,Mevalonic aciduria,21394,Disease,36547,Disorder,2
6043,407,245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245,Nager syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,404,30,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30,Hereditary orotic aciduria,21394,Disease,36547,Disorder,2
6043,405,36,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36,Acrocallosal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,394,915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915,Aarskog-Scott syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,392,2614,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614,Nail-patella syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,399,33,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33,Isovaleric acidemia,21394,Disease,36547,Disorder,5
6043,387,819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819,Smith-Magenis syndrome,21401,Malformation syndrome,36547,Disorder,5
6043,384,3085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,390,9,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9,Tetrasomy X,21401,Malformation syndrome,36547,Disorder,2
6043,17785,168615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615,Hereditary persistence of alpha-fetoprotein,21408,Biological anomaly,36547,Disorder,2
6043,17784,168612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612,Congenital deficiency in alpha-fetoprotein,21408,Biological anomaly,36547,Disorder,2
6043,442,1442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442,Ring chromosome 18 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17787,168621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621,"Dysplasia of head of femur, Meyer type",21394,Disease,36547,Disorder,1
6043,443,1452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452,Cleidocranial dysplasia,21401,Malformation syndrome,36547,Disorder,3
6043,444,1455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455,Autosomal dominant coarctation of aorta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,17788,168624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624,"Familial scaphocephaly syndrome, McGillivray type",21401,Malformation syndrome,36547,Disorder,2
6043,445,193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193,Cohen syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,446,1488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488,Cooper-Jabs syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,447,200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200,Isolated corpus callosum agenesis,21415,Morphological anomaly,36547,Disorder,2
6043,432,1334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334,Chronic mucocutaneous candidiasis,21394,Disease,36547,Disorder,1
6043,17777,168583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583,Hereditary North American Indian childhood cirrhosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,433,1369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,21394,Disease,36547,Disorder,2
6043,17776,168577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577,Hereditary cryohydrocytosis with reduced stomatin,21394,Disease,36547,Disorder,2
6043,17779,168593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593,Sudden infant death-dysgenesis of the testes syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,435,1406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406,Charlie M syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17778,168588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588,Hyperandrogenism due to cortisone reductase deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,437,1414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414,Cholestasis-lymphedema syndrome,21394,Disease,36547,Disorder,2
6043,17780,168598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598,Brain demyelination due to methionine adenosyltransferase deficiency,21394,Disease,36547,Disorder,2
6043,17782,168606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606,Seborrhea-like dermatitis with psoriasiform elements,21394,Disease,36547,Disorder,2
6043,17768,168549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549,Axial spondylometaphyseal dysplasia,21394,Disease,36547,Disorder,2
6043,17769,168552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,424,1154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,17770,168555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555,"Spondylometaphyseal dysplasia, A4 type",21394,Disease,36547,Disorder,2
6043,17771,168558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558,"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",21394,Disease,36547,Disorder,2
6043,17772,168563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,429,124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124,Blackfan-Diamond anemia,21394,Disease,36547,Disorder,5
6043,17773,168566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,21394,Disease,36547,Disorder,2
6043,431,1310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310,Caffey disease,21401,Malformation syndrome,36547,Disorder,2
6043,17774,168569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569,H syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17775,168572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572,Native American myopathy,21401,Malformation syndrome,36547,Disorder,1
6043,430,125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125,Bloom syndrome,21394,Disease,36547,Disorder,3
6043,417,90,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90,Argininemia,21394,Disease,36547,Disorder,3
6043,17761,168443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,21394,Disease,36547,Disorder,2
6043,416,1065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17763,168451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,21394,Disease,36547,Disorder,2
6043,418,1135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135,Arrhinia-choanal atresia-microphthalmia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17764,168454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",21394,Disease,36547,Disorder,2
6043,421,1146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146,Distal arthrogryposis type 1,21401,Malformation syndrome,36547,Disorder,1
6043,420,1143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143,Neurogenic arthrogryposis multiplex congenita,21394,Disease,36547,Disorder,2
6043,17765,168486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486,Congenital neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,2
6043,17766,168491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491,Late infantile neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,11
6043,17767,168544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544,"Spondylometaphyseal dysplasia, Golden type",21394,Disease,36547,Disorder,2
6043,422,1147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147,Sheldon-Hall syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,478,246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246,Postaxial acrofacial dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,476,1770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770,XY type gonadal dysgenesis-associated anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,477,1775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775,Dyskeratosis congenita,21394,Disease,36547,Disorder,1
6043,474,1764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764,Familial dysautonomia,21394,Disease,36547,Disorder,2
6043,472,235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235,Dubowitz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,473,239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239,Dyggve-Melchior-Clausen disease,21394,Disease,36547,Disorder,2
6043,470,1672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672,Diencephalic syndrome,21394,Disease,36547,Disorder,1
6043,468,833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833,Encephalopathy due to sulfite oxidase deficiency,21394,Disease,36547,Disorder,2
6043,17684,167714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714,Unclassified acute myeloid leukemia,36561,Category,36540,Group of disorders,1
6043,17682,167635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635,Scleromyxedema,21394,Disease,36547,Disorder,2
6043,467,765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765,Pyruvate dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,465,395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,21394,Disease,36547,Disorder,1
6043,463,408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408,Isolated glycerol kinase deficiency,21394,Disease,36547,Disorder,1
6043,462,148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148,Multiple carboxylase deficiency,21436,Clinical group,36540,Group of disorders,1
6043,461,147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147,Carbamoyl-phosphate synthetase 1 deficiency,21394,Disease,36547,Disorder,5
6043,459,23,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23,Argininosuccinic aciduria,21394,Disease,36547,Disorder,4
6043,458,45,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45,Adenosine monophosphate deaminase deficiency,21394,Disease,36547,Disorder,2
6043,457,226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226,Dihydropteridine reductase deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,456,217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217,Isolated Dandy-Walker malformation,21415,Morphological anomaly,36547,Disorder,2
6043,454,1556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556,Cutis marmorata telangiectatica congenita,21401,Malformation syndrome,36547,Disorder,2
6043,450,1538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,448,1496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496,Corpus callosum agenesis-neuronopathy syndrome,21394,Disease,36547,Disorder,2
6043,508,417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417,Neonatal severe primary hyperparathyroidism,21394,Disease,36547,Disorder,1
6043,510,2233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,511,2248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248,Hypoplastic left heart syndrome,21415,Morphological anomaly,36547,Disorder,24
6043,504,446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446,Neonatal hemochromatosis,21394,Disease,36547,Disorder,2
6043,505,2135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135,Hennekam-Beemer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,506,2140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140,Congenital diaphragmatic hernia,21415,Morphological anomaly,36547,Disorder,22
6043,507,2185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185,Congenital hydrocephalus,21401,Malformation syndrome,36547,Disorder,3
6043,502,2116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116,Hartnup disease,21394,Disease,36547,Disorder,5
6043,503,2118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118,Hawkinsinuria,21394,Disease,36547,Disorder,2
6043,498,351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351,Galactosialidosis,21394,Disease,36547,Disorder,3
6043,493,2020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020,Congenital fiber-type disproportion myopathy,21394,Disease,36547,Disorder,1
6043,494,2053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053,Freeman-Sheldon syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,488,295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295,Fetal parvovirus syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,491,1933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",21394,Disease,36547,Disorder,2
6043,485,1880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880,Ebstein malformation,21415,Morphological anomaly,36547,Disorder,22
6043,484,255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255,Dopa-responsive dystonia,21436,Clinical group,36540,Group of disorders,2
6043,487,1915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915,Fetal alcohol syndrome,21401,Malformation syndrome,36547,Disorder,16
6043,486,1885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885,Isolated ectopia lentis,21401,Malformation syndrome,36547,Disorder,2
6043,481,1851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851,Multicystic dysplastic kidney,21415,Morphological anomaly,36547,Disorder,1
6043,551,660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660,Omphalocele,21415,Morphological anomaly,36547,Disorder,43
6043,548,635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635,Neuroblastoma,21394,Disease,36547,Disorder,5
6043,549,2612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612,Linear nevus sebaceus syndrome,21394,Disease,36547,Disorder,1
6043,546,2635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635,Metatropic dysplasia,21394,Disease,36547,Disorder,3
6043,547,2655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655,Thanatophoric dysplasia,21394,Disease,36547,Disorder,9
6043,545,606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606,Proximal myotonic myopathy,21394,Disease,36547,Disorder,4
6043,558,705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705,Pendred syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,556,2801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801,Juvenile Paget disease,21401,Malformation syndrome,36547,Disorder,2
6043,557,884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884,Tetrasomy 12p,21401,Malformation syndrome,36547,Disorder,2
6043,555,2785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785,Osteopetrosis with renal tubular acidosis,21394,Disease,36547,Disorder,2
6043,552,2744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744,Horizontal gaze palsy with progressive scoliosis,21394,Disease,36547,Disorder,1
6043,553,2746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746,Opsismodysplasia,21394,Disease,36547,Disorder,2
6043,567,2971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971,Peroxisomal acyl-CoA oxidase deficiency,21394,Disease,36547,Disorder,2
6043,566,2970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970,Prune belly syndrome,21401,Malformation syndrome,36547,Disorder,5
6043,565,744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744,Proteus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,564,2903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903,Familial spontaneous pneumothorax,21394,Disease,36547,Disorder,1
6043,563,2901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901,Neuralgic amyotrophy,21394,Disease,36547,Disorder,4
6043,562,718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718,Isolated Pierre Robin syndrome,21401,Malformation syndrome,36547,Disorder,14
6043,575,290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290,Congenital rubella syndrome,21394,Disease,36547,Disorder,12
6043,574,3071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071,Costello syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,571,763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763,Pycnodysostosis,21394,Disease,36547,Disorder,2
6043,570,2983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983,Disorder of sex development-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,516,2301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301,Congenital short bowel syndrome,21415,Morphological anomaly,36547,Disorder,2
6043,517,469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469,Hereditary fructose intolerance,21394,Disease,36547,Disorder,10
6043,518,2308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308,Jacobsen syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,519,2318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318,Joubert syndrome with oculorenal defect,21401,Malformation syndrome,36547,Disorder,2
6043,512,2253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253,Foveal hypoplasia-presenile cataract syndrome,21394,Disease,36547,Disorder,2
6043,18125,180226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226,Embryonal carcinoma,21394,Disease,36547,Disorder,1
6043,526,502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502,Trichorhinophalangeal syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,18126,180229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229,Polyembryoma,21394,Disease,36547,Disorder,1
6043,527,2370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370,Larsen-like osseous dysplasia-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,520,477,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477,KID syndrome,21394,Disease,36547,Disorder,2
6043,521,2343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2343,Isolated cloverleaf skull syndrome,21415,Morphological anomaly,36547,Disorder,2
6043,523,2346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346,Angioosteohypertrophic syndrome,21394,Disease,36547,Disorder,2
6043,532,506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506,Leigh syndrome,21436,Clinical group,36540,Group of disorders,4
6043,534,2414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414,Congenital pulmonary lymphangiectasia,21394,Disease,36547,Disorder,2
6043,18128,180234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234,Mixed germ cell tumor,21394,Disease,36547,Disorder,1
6043,531,2377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377,Laurence-Moon syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,18131,180242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242,Malignant tumor of fallopian tubes,21394,Disease,36547,Disorder,4
6043,541,2466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466,MASA syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,18141,180275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275,Paget disease of the nipple,21394,Disease,36547,Disorder,24
6043,540,560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560,Marshall syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,543,587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=587,Muir-Torre syndrome,21394,Disease,36547,Disorder,2
6043,542,570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570,Moebius syndrome,21394,Disease,36547,Disorder,3
6043,537,1505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505,Short rib-polydactyly syndrome,21436,Clinical group,36540,Group of disorders,1
6043,538,2444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444,Congenital pulmonary airway malformation,21401,Malformation syndrome,36547,Disorder,14
6043,610,612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612,Potassium-aggravated myotonia,21436,Clinical group,36540,Group of disorders,1
6043,611,716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716,Phenylketonuria,21394,Disease,36547,Disorder,32
6043,612,287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287,Classical Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,1
6043,631,1020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020,Early-onset autosomal dominant Alzheimer disease,21394,Disease,36547,Disorder,1
6043,630,63,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63,Alport syndrome,21394,Disease,36547,Disorder,2
6043,629,54,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54,X-linked recessive ocular albinism,21394,Disease,36547,Disorder,6
6043,635,154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154,Familial isolated dilated cardiomyopathy,21394,Disease,36547,Disorder,3
6043,634,84,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84,Fanconi anemia,21401,Malformation syndrome,36547,Disorder,7
6043,633,70,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70,Proximal spinal muscular atrophy,21394,Disease,36547,Disorder,3
6043,632,69,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69,Amyloidosis,36561,Category,36540,Group of disorders,2
6043,638,191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191,Cockayne syndrome,21394,Disease,36547,Disorder,8
6043,637,166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,36561,Category,36540,Group of disorders,11
6043,578,834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834,Free sialic acid storage disease,21394,Disease,36547,Disorder,2
6043,580,799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799,Schizencephaly,21394,Disease,36547,Disorder,4
6043,582,3151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,21394,Disease,36547,Disorder,2
6043,18054,178566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566,Mycosis fungoides and variants,21436,Clinical group,36540,Group of disorders,2
6043,584,813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813,Silver-Russell syndrome,21394,Disease,36547,Disorder,5
6043,585,3169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169,Sirenomelia,21401,Malformation syndrome,36547,Disorder,18
6043,586,816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816,Sjögren-Larsson syndrome,21394,Disease,36547,Disorder,3
6043,588,821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821,Sotos syndrome,21394,Disease,36547,Disorder,4
6043,589,3173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173,Infantile spasms-broad thumbs syndrome,21394,Disease,36547,Disorder,2
6043,590,3204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204,Stormorken-Sjaastad-Langslet syndrome,21394,Disease,36547,Disorder,2
6043,591,3205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205,Sturge-Weber syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,595,3320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320,Thrombocytopenia-absent radius syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,597,3346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346,Tracheal agenesis,21415,Morphological anomaly,36547,Disorder,2
6043,596,858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858,Congenital toxoplasmosis,21394,Disease,36547,Disorder,14
6043,603,887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887,VACTERL/VATER association,21401,Malformation syndrome,36547,Disorder,2
6043,602,291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291,Congenital varicella syndrome,21394,Disease,36547,Disorder,2
6043,605,909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909,Cerebrotendinous xanthomatosis,21394,Disease,36547,Disorder,4
6043,604,3447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447,Weaver syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,606,1422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422,Chondrodysplasia-disorder of sex development syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18030,178478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478,Infant botulism,21450,Clinical subtype,36554,Subtype of disorder,5
6043,18031,178481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481,Intestinal botulism,21450,Clinical subtype,36554,Subtype of disorder,1
6043,18029,178475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475,Wound botulism,21443,Etiological subtype,36554,Subtype of disorder,2
6043,18026,178461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461,X-linked myopathy with postural muscle atrophy,21394,Disease,36547,Disorder,2
6043,18027,178464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464,Hereditary myopathy with early respiratory failure,21394,Disease,36547,Disorder,2
6043,18024,178396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,21394,Disease,36547,Disorder,2
6043,18025,178400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400,Distal myopathy with anterior tibial onset,21394,Disease,36547,Disorder,2
6043,18022,178382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382,Congenital vertical talus,21415,Morphological anomaly,36547,Disorder,1
6043,18023,178389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389,Osteopetrosis-hypogammaglobulinemia syndrome,21394,Disease,36547,Disorder,2
6043,678,62,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62,Alpha-sarcoglycan-related  limb-girdle muscular dystrophy R3,21394,Disease,36547,Disorder,2
6043,18020,178364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364,Syndromic microphthalmia type 5,21401,Malformation syndrome,36547,Disorder,2
6043,677,715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,21394,Disease,36547,Disorder,2
6043,18021,178377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,676,348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348,"Fructose-1,6-bisphosphatase deficiency",21394,Disease,36547,Disorder,2
6043,18018,178345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345,Aromatase excess syndrome,21394,Disease,36547,Disorder,2
6043,18019,178355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355,Smith-McCort dysplasia,21394,Disease,36547,Disorder,2
6043,18016,178338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338,UV-sensitive syndrome,21394,Disease,36547,Disorder,2
6043,673,3137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137,Alpha-N-acetylgalactosaminidase deficiency,21394,Disease,36547,Disorder,2
6043,703,117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117,Behçet disease,21394,Disease,36547,Disorder,17
6043,700,732,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732,Polymyositis,21394,Disease,36547,Disorder,8
6043,701,221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221,Dermatomyositis,21394,Disease,36547,Disorder,8
6043,698,598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598,Multiminicore myopathy,21394,Disease,36547,Disorder,1
6043,697,204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204,Sporadic Creutzfeldt-Jakob disease,21394,Disease,36547,Disorder,5
6043,18039,178517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517,Localized pagetoid reticulosis,21394,Disease,36547,Disorder,1
6043,18038,178512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512,Folliculotropic mycosis fungoides,21394,Disease,36547,Disorder,1
6043,18037,178509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509,Perry syndrome,21394,Disease,36547,Disorder,2
6043,18036,178506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506,"Brain calcification, Rajab type",21394,Disease,36547,Disorder,2
6043,690,611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611,Inclusion body myositis,21394,Disease,36547,Disorder,6
6043,18032,178487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487,Adult intestinal botulism,21450,Clinical subtype,36554,Subtype of disorder,2
6043,17996,177926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926,Symptomatic form of hemophilia A in female carriers,21450,Clinical subtype,36554,Subtype of disorder,1
6043,653,581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581,Mucopolysaccharidosis type 3,21394,Disease,36547,Disorder,25
6043,17997,177929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929,Symptomatic form of hemophilia B in female carriers,21450,Clinical subtype,36554,Subtype of disorder,1
6043,655,685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685,Hereditary spastic paraplegia,21436,Clinical group,36540,Group of disorders,10
6043,654,666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666,Osteogenesis imperfecta,21394,Disease,36547,Disorder,7
6043,17999,178029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029,Central diabetes insipidus,21394,Disease,36547,Disorder,1
6043,649,423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423,Malignant hyperthermia of anesthesia,21394,Disease,36547,Disorder,1
6043,648,418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418,Congenital adrenal hyperplasia,21436,Clinical group,36540,Group of disorders,18
6043,650,216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216,Neuronal ceroid lipofuscinosis,21436,Clinical group,36540,Group of disorders,6
6043,645,364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364,Glycogen storage disease due to glucose-6-phosphatase deficiency,21394,Disease,36547,Disorder,2
6043,644,355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355,Gaucher disease,21394,Disease,36547,Disorder,15
6043,647,388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388,Hirschsprung disease,21394,Disease,36547,Disorder,27
6043,17991,177107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107,Syndromic hypothyroidism,36561,Category,36540,Group of disorders,1
6043,646,448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448,Hemophilia,21436,Clinical group,36540,Group of disorders,2
6043,641,304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304,Epidermolysis bullosa simplex,21436,Clinical group,36540,Group of disorders,20
6043,643,354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354,GM1 gangliosidosis,21394,Disease,36547,Disorder,5
6043,18013,178320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320,Acute lung injury,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,4
6043,18015,178333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333,Åland Islands eye disease,21394,Disease,36547,Disorder,2
6043,671,760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760,Purine nucleoside phosphorylase deficiency,21394,Disease,36547,Disorder,2
6043,664,270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270,Oculopharyngeal muscular dystrophy,21394,Disease,36547,Disorder,4
6043,18009,178303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303,8q22.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,665,244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244,Primary ciliary dyskinesia,21394,Disease,36547,Disorder,2
6043,18010,178307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307,Reticulate acropigmentation of Kitamura,21394,Disease,36547,Disorder,2
6043,667,589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589,Myasthenia gravis,21394,Disease,36547,Disorder,26
6043,660,805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805,Tuberous sclerosis complex,21394,Disease,36547,Disorder,10
6043,662,886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886,Usher syndrome,21394,Disease,36547,Disorder,11
6043,663,3440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440,Waardenburg syndrome,21394,Disease,36547,Disorder,5
6043,656,702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702,Pelizaeus-Merzbacher disease,21394,Disease,36547,Disorder,3
6043,657,738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738,Porphyria,21436,Clinical group,36540,Group of disorders,3
6043,658,768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768,Familial long QT syndrome,21436,Clinical group,36540,Group of disorders,2
6043,659,791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791,Retinitis pigmentosa,21394,Disease,36547,Disorder,9
6043,747,375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375,Anti-glomerular basement membrane disease,21394,Disease,36547,Disorder,5
6043,745,183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183,Eosinophilic granulomatosis with polyangiitis,21394,Disease,36547,Disorder,19
6043,744,1164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164,Allergic bronchopulmonary aspergillosis,21394,Disease,36547,Disorder,1
6043,751,2406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406,Locked-in syndrome,21394,Disease,36547,Disorder,2
6043,750,509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509,Leptospirosis,21394,Disease,36547,Disorder,27
6043,749,761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761,Immunoglobulin A vasculitis,21394,Disease,36547,Disorder,2
6043,748,2131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131,Alternating hemiplegia of childhood,21394,Disease,36547,Disorder,2
6043,17954,171901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901,Primary cutaneous T-cell lymphoma,36561,Category,36540,Group of disorders,24
6043,739,713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,21394,Disease,36547,Disorder,2
6043,17955,171915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915,B-cell non-Hodgkin lymphoma,36561,Category,36540,Group of disorders,1
6043,738,57,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57,Glycogen storage disease due to aldolase A deficiency,21394,Disease,36547,Disorder,1
6043,743,249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249,Fibrous dysplasia of bone,21401,Malformation syndrome,36547,Disorder,1
6043,742,2334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334,Autosomal dominant keratitis,21394,Disease,36547,Disorder,1
6043,17956,171918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918,T-cell non-Hodgkin lymphoma,36561,Category,36540,Group of disorders,1
6043,17957,171929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929,Trisomy 10p,21401,Malformation syndrome,36547,Disorder,2
6043,762,187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187,Citrullinemia,36561,Category,36540,Group of disorders,1
6043,763,46,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46,Adenylosuccinate lyase deficiency,21394,Disease,36547,Disorder,2
6043,760,442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442,Congenital hypothyroidism,36561,Category,36540,Group of disorders,46
6043,761,43,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43,X-linked adrenoleukodystrophy,21394,Disease,36547,Disorder,11
6043,766,3166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166,Sialuria,21394,Disease,36547,Disorder,2
6043,765,2882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882,Sitosterolemia,21394,Disease,36547,Disorder,2
6043,754,810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810,Shigellosis,21394,Disease,36547,Disorder,30
6043,755,3165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165,Eosinophilic fasciitis,21394,Disease,36547,Disorder,2
6043,752,2420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420,Primary pulmonary lymphoma,21394,Disease,36547,Disorder,1
6043,753,727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727,Microscopic polyangiitis,21394,Disease,36547,Disorder,21
6043,759,900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900,Granulomatosis with polyangiitis,21394,Disease,36547,Disorder,25
6043,757,863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863,Trichinellosis,21394,Disease,36547,Disorder,10
6043,713,134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134,Beta-ketothiolase deficiency,21394,Disease,36547,Disorder,5
6043,17929,171700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700,Diffuse panbronchiolitis,21394,Disease,36547,Disorder,1
6043,17930,171703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17931,171706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,21394,Disease,36547,Disorder,1
6043,17934,171719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719,Cutis laxa-Marfanoid syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,719,1163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163,Aspergillosis,21394,Disease,36547,Disorder,1
6043,704,3467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467,Hereditary xanthinuria,21394,Disease,36547,Disorder,3
6043,17923,171673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673,Limbal stem cell deficiency,21394,Disease,36547,Disorder,1
6043,17924,171676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171676,Periventricular leukomalacia,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,708,511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511,Maple syrup urine disease,21394,Disease,36547,Disorder,10
6043,17925,171680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680,Lissencephaly due to TUBA1A mutation,21401,Malformation syndrome,36547,Disorder,2
6043,711,32,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32,Glutathione synthetase deficiency,21394,Disease,36547,Disorder,2
6043,710,26,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26,Methylmalonic acidemia with homocystinuria,21394,Disease,36547,Disorder,2
6043,17945,171863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863,Autosomal dominant spastic paraplegia type 42,21394,Disease,36547,Disorder,2
6043,17944,171860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171860,Intellectual disability-cataracts-kyphosis syndrome,21394,Disease,36547,Disorder,2
6043,17947,171871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871,Renal pseudohypoaldosteronism type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,730,322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322,Exstrophy-epispadias complex,21401,Malformation syndrome,36547,Disorder,1
6043,17946,171866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",21394,Disease,36547,Disorder,2
6043,731,2368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368,Gastroschisis,21415,Morphological anomaly,36547,Disorder,20
6043,17949,171881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881,Cap myopathy,21394,Disease,36547,Disorder,2
6043,732,2512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512,Autosomal recessive primary microcephaly,21443,Etiological subtype,36554,Subtype of disorder,3
6043,17948,171876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876,Generalized pseudohypoaldosteronism type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,734,795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=795,Rare form of salmonellosis,36561,Category,36540,Group of disorders,1
6043,735,797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797,Sarcoidosis,21394,Disease,36547,Disorder,34
6043,720,92,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92,Juvenile idiopathic arthritis,21436,Clinical group,36540,Group of disorders,6
6043,17936,171829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829,6q16 microdeletion syndrome,21394,Disease,36547,Disorder,2
6043,722,1201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201,Atresia of small intestine,21415,Morphological anomaly,36547,Disorder,32
6043,17939,171844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844,Blindness-scoliosis-arachnodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17938,171839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,723,1202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202,Larynx atresia,21401,Malformation syndrome,36547,Disorder,1
6043,724,1199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199,Esophageal atresia,21415,Morphological anomaly,36547,Disorder,21
6043,17941,171851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851,MEDNIK syndrome,21394,Disease,36547,Disorder,2
6043,17940,171848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,21394,Disease,36547,Disorder,2
6043,725,1304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304,Brucellosis,21394,Disease,36547,Disorder,25
6043,726,173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173,Cholera,21394,Disease,36547,Disorder,13
6043,727,1428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1428,Familial chondromalacia patellae,21394,Disease,36547,Disorder,2
6043,820,3303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303,Tetralogy of Fallot,21401,Malformation syndrome,36547,Disorder,23
6043,18421,200418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418,Immunodeficiency with factor I anomaly,21394,Disease,36547,Disorder,2
6043,823,730,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730,Autosomal dominant polycystic kidney disease,21394,Disease,36547,Disorder,1
6043,822,486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486,Autosomal dominant severe congenital neutropenia,21394,Disease,36547,Disorder,1
6043,817,1209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209,Tricuspid atresia,21415,Morphological anomaly,36547,Disorder,16
6043,816,98,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,21394,Disease,36547,Disorder,2
6043,818,1478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478,Interatrial communication,21415,Morphological anomaly,36547,Disorder,1
6043,829,330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330,Congenital factor XII deficiency,21394,Disease,36547,Disorder,1
6043,831,1959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959,Evans syndrome,21394,Disease,36547,Disorder,1
6043,830,284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284,Alveolar echinococcosis,21394,Disease,36547,Disorder,6
6043,825,1177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177,Early-onset cerebellar ataxia with retained tendon reflexes,21394,Disease,36547,Disorder,3
6043,824,828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828,Stickler syndrome,21394,Disease,36547,Disorder,5
6043,827,1431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431,Paroxysmal dyskinesia,21436,Clinical group,36540,Group of disorders,1
6043,804,293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293,Congenital herpes simplex virus infection,21394,Disease,36547,Disorder,3
6043,18405,199340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340,"Muscular dystrophy, Selcen type",21394,Disease,36547,Disorder,2
6043,18404,199337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,21394,Disease,36547,Disorder,2
6043,805,234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234,Dubin-Johnson syndrome,21394,Disease,36547,Disorder,1
6043,18407,199348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348,Thiamine-responsive encephalopathy,21394,Disease,36547,Disorder,2
6043,806,3287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287,Takayasu arteritis,21394,Disease,36547,Disorder,21
6043,18406,199343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343,EAST syndrome,21394,Disease,36547,Disorder,2
6043,807,2800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800,Extramammary Paget disease,21394,Disease,36547,Disorder,1
6043,18401,199326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",21394,Disease,36547,Disorder,2
6043,802,1928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928,Congenital lobar emphysema,21415,Morphological anomaly,36547,Disorder,2
6043,18403,199332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332,Endocrine-cerebro-osteodysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18402,199329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329,"Congenital myopathy, Paradas type",21394,Disease,36547,Disorder,2
6043,812,3463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463,Wolfram syndrome,21394,Disease,36547,Disorder,6
6043,813,1549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1549,Cryptosporidiosis,21394,Disease,36547,Disorder,3
6043,815,549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=549,Legionellosis,21394,Disease,36547,Disorder,31
6043,808,704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704,Pemphigus vulgaris,21394,Disease,36547,Disorder,8
6043,18409,199354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,21394,Disease,36547,Disorder,1
6043,18408,199351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351,Adult-onset dystonia-parkinsonism,21394,Disease,36547,Disorder,2
6043,809,356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356,Gerstmann-Straussler-Scheinker syndrome,21394,Disease,36547,Disorder,2
6043,810,466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466,Fatal familial insomnia,21394,Disease,36547,Disorder,2
6043,18391,199293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293,Congenital microgastria,21415,Morphological anomaly,36547,Disorder,1
6043,789,3452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452,Whipple disease,21394,Disease,36547,Disorder,4
6043,18388,199282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282,Harlequin syndrome,21394,Disease,36547,Disorder,2
6043,18389,199285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285,Hereditary hypercarotenemia and vitamin A deficiency,21394,Disease,36547,Disorder,1
6043,788,2331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331,Kawasaki disease,21394,Disease,36547,Disorder,1
6043,787,2102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102,GTP cyclohydrolase I deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,784,3002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002,Immune thrombocytopenia,21394,Disease,36547,Disorder,7
6043,18385,199267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267,Infantile digital fibromatosis,21394,Disease,36547,Disorder,2
6043,798,2040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040,Congenital respiratory-biliary fistula,21415,Morphological anomaly,36547,Disorder,2
6043,18399,199318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318,15q13.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,797,2357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357,Bronchogenic cyst,21415,Morphological anomaly,36547,Disorder,1
6043,796,274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274,Bernard-Soulier syndrome,21394,Disease,36547,Disorder,2
6043,795,1195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195,Congenital atransferrinemia,21394,Disease,36547,Disorder,2
6043,18394,199302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302,Isolated cleft lip,21415,Morphological anomaly,36547,Disorder,1
6043,18395,199306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306,Cleft lip/palate,21415,Morphological anomaly,36547,Disorder,4
6043,794,926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926,Acatalasemia,21394,Disease,36547,Disorder,1
6043,793,3020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020,Ramsay Hunt syndrome,21394,Disease,36547,Disorder,2
6043,792,1531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531,Craniosynostosis,36561,Category,36540,Group of disorders,5
6043,774,1675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675,Dihydropyrimidine dehydrogenase deficiency,21394,Disease,36547,Disorder,1
6043,18374,189427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427,Cushing syndrome due to macronodular adrenal hyperplasia,21394,Disease,36547,Disorder,1
6043,775,976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976,Adenine phosphoribosyltransferase deficiency,21394,Disease,36547,Disorder,4
6043,773,3129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129,Sarcosinemia,21394,Disease,36547,Disorder,4
6043,770,415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,21394,Disease,36547,Disorder,4
6043,771,13,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13,6-pyruvoyl-tetrahydropterin synthase deficiency,21450,Clinical subtype,36554,Subtype of disorder,3
6043,782,2494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494,Ménétrier disease,21394,Disease,36547,Disorder,1
6043,783,171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171,Primary sclerosing cholangitis,21394,Disease,36547,Disorder,18
6043,18381,199247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247,Corticosteroid-binding globulin deficiency,21394,Disease,36547,Disorder,1
6043,18379,199241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241,Pulmonary capillary hemangiomatosis,21394,Disease,36547,Disorder,2
6043,779,2134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134,Atypical hemolytic uremic syndrome,21394,Disease,36547,Disorder,2
6043,776,17,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17,Fatal infantile lactic acidosis with methylmalonic aciduria,21394,Disease,36547,Disorder,1
6043,18376,189439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189439,Primary pigmented nodular adrenocortical disease,21394,Disease,36547,Disorder,1
6043,880,3006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006,Pyridoxine-dependent epilepsy,21394,Disease,36547,Disorder,5
6043,883,780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780,Rhabdomyosarcoma,21394,Disease,36547,Disorder,2
6043,882,3111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111,Rotor syndrome,21394,Disease,36547,Disorder,2
6043,885,2382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382,Lennox-Gastaut syndrome,21394,Disease,36547,Disorder,2
6043,884,2806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806,Subacute sclerosing leukoencephalitis,21394,Disease,36547,Disorder,3
6043,887,2467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467,Systemic mastocytosis,21436,Clinical group,36540,Group of disorders,7
6043,889,1934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934,Early infantile epileptic encephalopathy,21422,Clinical syndrome,36547,Disorder,3
6043,888,845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845,Tay-Sachs disease,21394,Disease,36547,Disorder,12
6043,891,1942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942,Myoclonic-astastic epilepsy,21394,Disease,36547,Disorder,1
6043,890,1935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935,Early myoclonic encephalopathy,21422,Clinical syndrome,36547,Disorder,2
6043,892,1943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943,Early-onset progressive encephalopathy with migrant continuous myoclonus,21394,Disease,36547,Disorder,2
6043,894,3451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451,West syndrome,21422,Clinical syndrome,36547,Disorder,10
6043,864,3299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299,Tetanus,21394,Disease,36547,Disorder,24
6043,865,2302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302,Asbestos intoxication,21394,Disease,36547,Disorder,1
6043,866,770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770,Rabies,21394,Disease,36547,Disorder,3
6043,867,3386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3386,American trypanosomiasis,21394,Disease,36547,Disorder,11
6043,870,267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267,Calpain-3-related  limb-girdle muscular dystrophy R1,21394,Disease,36547,Disorder,4
6043,871,1329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329,Complete atrioventricular septal defect,21415,Morphological anomaly,36547,Disorder,2
6043,872,582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582,Mucopolysaccharidosis type 4,21394,Disease,36547,Disorder,23
6043,873,2137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137,Autoimmune hepatitis,21394,Disease,36547,Disorder,17
6043,874,186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186,Primary biliary cholangitis,21394,Disease,36547,Disorder,28
6043,875,1136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1136,Arnold-Chiari malformation type II,21415,Morphological anomaly,36547,Disorder,1
6043,876,397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397,Giant cell arteritis,21394,Disease,36547,Disorder,8
6043,877,2932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932,Chronic inflammatory demyelinating polyneuropathy,21394,Disease,36547,Disorder,10
6043,878,2398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398,Multiple symmetric lipomatosis,21394,Disease,36547,Disorder,2
6043,879,1656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656,Dermatitis herpetiformis,21394,Disease,36547,Disorder,11
6043,849,3198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198,Stiff person spectrum disorder,21394,Disease,36547,Disorder,3
6043,848,2929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929,Juvenile polyposis syndrome,21394,Disease,36547,Disorder,2
6043,854,131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131,Budd-Chiari syndrome,21394,Disease,36547,Disorder,12
6043,853,646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646,Niemann-Pick disease type C,21394,Disease,36547,Disorder,9
6043,852,654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654,Nephroblastoma,21394,Disease,36547,Disorder,27
6043,859,1489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1489,Whooping cough,21394,Disease,36547,Disorder,30
6043,858,2764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764,Osteochondritis dissecans,21394,Disease,36547,Disorder,1
6043,863,3389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389,Tuberculosis,21394,Disease,36547,Disorder,40
6043,862,1679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1679,Diphtheria,21394,Disease,36547,Disorder,1
6043,861,1267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267,Botulism,21394,Disease,36547,Disorder,25
6043,860,2897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897,Pityriasis rubra pilaris,21394,Disease,36547,Disorder,2
6043,834,2103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103,Guillain-Barré syndrome,21436,Clinical group,36540,Group of disorders,7
6043,18306,183669,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669,Agammaglobulinemia,36561,Category,36540,Group of disorders,9
6043,833,2070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070,Eosinophilic gastroenteritis,21394,Disease,36547,Disorder,3
6043,18311,183707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707,Neutrophil immunodeficiency syndrome,21394,Disease,36547,Disorder,2
6043,839,2314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314,Autosomal dominant hyper-IgE syndrome,21394,Disease,36547,Disorder,2
6043,18309,183678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678,Hermansky-Pudlak syndrome with neutropenia,21450,Clinical subtype,36554,Subtype of disorder,2
6043,836,449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449,Hepatoblastoma,21394,Disease,36547,Disorder,26
6043,18308,183675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,21394,Disease,36547,Disorder,1
6043,837,2177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177,Hydranencephaly,21401,Malformation syndrome,36547,Disorder,4
6043,842,533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=533,Listeriosis,21394,Disease,36547,Disorder,34
6043,18313,183713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713,Bacterial susceptibility due to TLR signaling pathway deficiency,21394,Disease,36547,Disorder,2
6043,841,2380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380,Legg-Calvé-Perthes disease,21394,Disease,36547,Disorder,1
6043,846,683,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683,Progressive supranuclear palsy,21394,Disease,36547,Disorder,10
6043,844,677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677,Pancreatoblastoma,21394,Disease,36547,Disorder,13
6043,18303,183660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660,Severe combined immunodeficiency,21436,Clinical group,36540,Group of disorders,9
6043,959,897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897,Waardenburg-Shah syndrome,21394,Disease,36547,Disorder,2
6043,954,808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808,Seckel syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,950,844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=844,Lown-Ganong-Levine syndrome,21394,Disease,36547,Disorder,2
6043,946,3027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027,Caudal regression sequence,21401,Malformation syndrome,36547,Disorder,1
6043,937,676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676,Hereditary chronic pancreatitis,21394,Disease,36547,Disorder,3
6043,936,643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643,Giant axonal neuropathy,21394,Disease,36547,Disorder,2
6043,938,634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634,Netherton syndrome,21394,Disease,36547,Disorder,2
6043,933,140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140,Campomelic dysplasia,21401,Malformation syndrome,36547,Disorder,3
6043,932,2828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828,Young-onset Parkinson disease,21394,Disease,36547,Disorder,2
6043,935,642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642,Hereditary sensory and autonomic neuropathy type 4,21394,Disease,36547,Disorder,2
6043,931,627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627,Nance-Horan syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,930,638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638,Neurofibromatosis-Noonan syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,926,326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326,Congenital factor V deficiency,21394,Disease,36547,Disorder,1
6043,927,526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526,Liddle syndrome,21394,Disease,36547,Disorder,2
6043,924,650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650,LCAT deficiency,21394,Disease,36547,Disorder,2
6043,925,427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427,Familial hypoaldosteronism,21394,Disease,36547,Disorder,1
6043,923,215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215,Congenital stationary night blindness,21394,Disease,36547,Disorder,1
6043,920,342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342,Familial Mediterranean fever,21394,Disease,36547,Disorder,6
6043,921,180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180,Choroideremia,21394,Disease,36547,Disorder,1
6043,918,754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754,Androgen insensitivity syndrome,21436,Clinical group,36540,Group of disorders,4
6043,919,253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,21436,Clinical group,36540,Group of disorders,1
6043,916,327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327,Congenital factor VII deficiency,21394,Disease,36547,Disorder,1
6043,18259,183518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518,Rare hereditary ataxia,36561,Category,36540,Group of disorders,1
6043,912,373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373,Simpson-Golabi-Behmel syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,913,403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403,Familial hyperaldosteronism type I,21394,Disease,36547,Disorder,2
6043,910,574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574,Monosomy 21,21401,Malformation syndrome,36547,Disorder,2
6043,906,653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653,Multiple endocrine neoplasia type 2,21394,Disease,36547,Disorder,2
6043,905,146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146,Differentiated thyroid carcinoma,21394,Disease,36547,Disorder,3
6043,903,1331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331,Familial prostate cancer,21394,Disease,36547,Disorder,1
6043,901,157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157,Carnitine palmitoyltransferase II deficiency,21394,Disease,36547,Disorder,4
6043,900,847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847,Alpha-thalassemia-X-linked intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,896,1446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446,Ring chromosome 22 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18232,183435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435,Inherited ichthyosis,36561,Category,36540,Group of disorders,1
6043,1018,2268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268,ICF syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1022,475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475,Joubert syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1023,392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392,Holt-Oram syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1009,113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113,Bazex-Dupré-Christol syndrome,21394,Disease,36547,Disorder,2
6043,1011,243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243,"46,XX gonadal dysgenesis",21401,Malformation syndrome,36547,Disorder,1
6043,18230,183422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422,Polymalformative genetic syndrome with increased risk of developing cancer,36561,Category,36540,Group of disorders,1
6043,1001,136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,21394,Disease,36547,Disorder,3
6043,18217,182114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182114,Rare urogenital tumor,36561,Category,36540,Group of disorders,2
6043,1000,48,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48,Congenital bilateral absence of vas deferens,21415,Morphological anomaly,36547,Disorder,1
6043,18222,182130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182130,Tumor of endocrine glands,36561,Category,36540,Group of disorders,2
6043,1007,528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528,Berardinelli-Seip congenital lipodystrophy,21394,Disease,36547,Disorder,3
6043,993,275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275,Severe combined immunodeficiency due to DCLRE1C deficiency,21394,Disease,36547,Disorder,1
6043,18210,182090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090,Pulmonary arterial hypertension,36561,Category,36540,Group of disorders,12
6043,18211,182095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095,Interstitial lung disease,36561,Category,36540,Group of disorders,5
6043,996,184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184,Cherubism,21401,Malformation syndrome,36547,Disorder,2
6043,999,1047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047,Sideroblastic anemia,36561,Category,36540,Group of disorders,1
6043,998,71,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71,Chylomicron retention disease,21394,Disease,36547,Disorder,2
6043,18203,182067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182067,Glial tumor,21436,Clinical group,36540,Group of disorders,5
6043,990,1949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949,Benign familial neonatal epilepsy,21394,Disease,36547,Disorder,2
6043,991,189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189,Hidrotic ectodermal dysplasia,21394,Disease,36547,Disorder,1
6043,988,1473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473,Uveal coloboma-cleft lip and palate-intellectual disability,21401,Malformation syndrome,36547,Disorder,2
6043,982,1344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344,Atrial standstill,21394,Disease,36547,Disorder,1
6043,18198,182050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050,MYH9-related disease,21394,Disease,36547,Disorder,2
6043,971,3103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103,Roberts syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,968,709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709,Peters plus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,972,776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776,X-linked intellectual disability with marfanoid habitus,21401,Malformation syndrome,36547,Disorder,1
6043,960,902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902,Werner syndrome,21394,Disease,36547,Disorder,4
6043,967,888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888,Van der Woude syndrome,21401,Malformation syndrome,36547,Disorder,9
6043,965,871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871,Familial progressive cardiac conduction defect,21394,Disease,36547,Disorder,2
6043,1096,1597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597,Distal monosomy 17q,21401,Malformation syndrome,36547,Disorder,1
6043,1092,1590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590,Distal monosomy 13q,21401,Malformation syndrome,36547,Disorder,2
6043,1115,1621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621,3q13 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1114,1620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620,Distal monosomy 3p,21401,Malformation syndrome,36547,Disorder,2
6043,1121,1627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627,Deletion 5q35,21401,Malformation syndrome,36547,Disorder,2
6043,1150,1699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699,Trisomy 12p,21401,Malformation syndrome,36547,Disorder,3
6043,1032,500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500,Noonan syndrome with multiple lentigines,21401,Malformation syndrome,36547,Disorder,2
6043,1033,507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507,Leishmaniasis,21394,Disease,36547,Disorder,2
6043,1036,548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548,Leprosy,21394,Disease,36547,Disorder,2
6043,1039,233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233,Duane retraction syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1025,657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657,Congenital isolated hyperinsulinism,21436,Clinical group,36540,Group of disorders,5
6043,1030,2495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495,Meningioma,21394,Disease,36547,Disorder,5
6043,1031,569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569,Familial or sporadic hemiplegic migraine,21394,Disease,36547,Disorder,2
6043,1052,2014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014,Cleft palate,21436,Clinical group,36540,Group of disorders,54
6043,1043,240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240,Léri-Weill dyschondrosteosis,21401,Malformation syndrome,36547,Disorder,1
6043,1042,2311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311,Autosomal recessive spondylocostal dysostosis,21401,Malformation syndrome,36547,Disorder,1
6043,1045,358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358,Gitelman syndrome,21394,Disease,36547,Disorder,1
6043,1044,242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242,"46,XY complete gonadal dysgenesis",21401,Malformation syndrome,36547,Disorder,3
6043,1046,2052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052,Fraser syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1070,1354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354,Heart defects-limb shortening syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1071,1358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358,Carey-Fineman-Ziter syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1058,557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557,Isolated anorectal malformation,21436,Clinical group,36540,Group of disorders,21
6043,1059,111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111,Barth syndrome,21394,Disease,36547,Disorder,4
6043,1056,10,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10,"48,XXYY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,1062,1308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308,C syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1063,150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150,Nasopharyngeal carcinoma,21394,Disease,36547,Disorder,27
6043,1061,133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133,Chronic beryllium disease,21394,Disease,36547,Disorder,1
6043,1082,1552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552,Currarino syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1081,1450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450,Ring chromosome 8 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1080,1448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448,Ring chromosome 6 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1085,1580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580,Distal monosomy 10p,21401,Malformation syndrome,36547,Disorder,1
6043,1075,1437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437,Ring chromosome 1 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1073,172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172,Progressive familial intrahepatic cholestasis,21394,Disease,36547,Disorder,1
6043,1079,1447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447,Ring chromosome 4 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1078,1444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444,Ring chromosome 20 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1077,1439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439,Ring chromosome 12 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1076,1438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438,Ring chromosome 10 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1231,3375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375,Trisomy X,21401,Malformation syndrome,36547,Disorder,1
6043,1230,3310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310,Tetrasomy 9p,21401,Malformation syndrome,36547,Disorder,2
6043,1225,3000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000,Familial male-limited precocious puberty,21394,Disease,36547,Disorder,1
6043,1226,3176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176,Spina bifida-hypospadias syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1236,1708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708,Mosaic trisomy 16,21401,Malformation syndrome,36547,Disorder,2
6043,1237,1711,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711,Mosaic trisomy 17,21401,Malformation syndrome,36547,Disorder,2
6043,1232,3376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376,Triploidy,21401,Malformation syndrome,36547,Disorder,2
6043,1233,1692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692,Mosaic trisomy 1,21401,Malformation syndrome,36547,Disorder,2
6043,1234,1698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698,Mosaic trisomy 12,21401,Malformation syndrome,36547,Disorder,1
6043,1235,1706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706,Mosaic trisomy 15,21401,Malformation syndrome,36547,Disorder,1
6043,1244,916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916,Aase-Smith syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1247,920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920,Ablepharon macrostomia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1241,1445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445,Ring chromosome 21 syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1242,7,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7,3C syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1255,931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931,Acheiropodia,21415,Morphological anomaly,36547,Disorder,3
6043,1254,929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929,Achalasia-microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1253,869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869,Triple A syndrome,21394,Disease,36547,Disorder,2
6043,1251,2297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297,Insulin-resistance syndrome type A,21394,Disease,36547,Disorder,1
6043,1249,922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922,Familial nasal acilia,21394,Disease,36547,Disorder,2
6043,1248,921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921,Abruzzo-Erickson syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1263,27,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27,Vitamin B12-unresponsive methylmalonic acidemia,21394,Disease,36547,Disorder,1
6043,1260,939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939,3-hydroxyisobutyric aciduria,21394,Disease,36547,Disorder,2
6043,1259,31,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31,Oxoglutaric aciduria,21394,Disease,36547,Disorder,1
6043,1258,935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935,Short-limb skeletal dysplasia with severe combined immunodeficiency,21394,Disease,36547,Disorder,2
6043,1256,932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932,Achondrogenesis,21394,Disease,36547,Disorder,2
6043,1270,1795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1795,Peripheral dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,1268,37,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37,Acrodermatitis enteropathica,21394,Disease,36547,Disorder,3
6043,1269,950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950,Acrodysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,1267,949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949,Acrocraniofacial dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,1264,945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945,Acalvaria,21401,Malformation syndrome,36547,Disorder,2
6043,1265,946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=946,Acrocephalosyndactyly,21436,Clinical group,36540,Group of disorders,1
6043,1278,957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957,Acropectorovertebral dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1279,958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958,Acro-renal-mandibular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1276,955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955,Acroosteolysis dominant type,21401,Malformation syndrome,36547,Disorder,2
6043,1272,952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952,"Acrofacial dysostosis, Weyers type",21401,Malformation syndrome,36547,Disorder,1
6043,1174,1738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738,Trisomy 4p,21401,Malformation syndrome,36547,Disorder,2
6043,1178,1742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742,Trisomy 5p,21401,Malformation syndrome,36547,Disorder,2
6043,1181,1745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745,Distal trisomy 6p,21401,Malformation syndrome,36547,Disorder,2
6043,1186,1752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752,Trisomy 8q,21401,Malformation syndrome,36547,Disorder,2
6043,1190,1762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762,Trisomy Xq28,21401,Malformation syndrome,36547,Disorder,1
6043,1195,1878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878,TRIM32-related  limb-girdle muscular dystrophy R8,21394,Disease,36547,Disorder,1
6043,1193,1876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876,Oculogastrointestinal muscular dystrophy,21394,Disease,36547,Disorder,2
6043,1199,1948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1198,1946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946,Amelocerebrohypohidrotic syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1201,1951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951,Epilepsy-telangiectasia syndrome,21394,Disease,36547,Disorder,2
6043,1206,381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381,Griscelli syndrome,21394,Disease,36547,Disorder,2
6043,1209,2604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604,Familial visceral myopathy,21394,Disease,36547,Disorder,1
6043,1215,156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156,Carnitine palmitoyl transferase 1A deficiency,21394,Disease,36547,Disorder,2
6043,1212,2597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,21394,Disease,36547,Disorder,2
6043,1213,2598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598,Mitochondrial myopathy and sideroblastic anemia,21394,Disease,36547,Disorder,2
6043,1372,1078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078,Thumb stiffness-brachydactyly-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1371,1077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077,Dental ankylosis,21401,Malformation syndrome,36547,Disorder,1
6043,1368,1074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1366,1072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,1365,1071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1364,1069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069,Aniridia-absent patella syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1363,1068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068,Aniridia-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1362,1067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1360,1064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064,Aniridia-renal agenesis-psychomotor retardation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1359,1062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062,Hereditary neurocutaneous malformation,21394,Disease,36547,Disorder,2
6043,1352,1053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053,Vein of Galen aneurysmal malformation,21415,Morphological anomaly,36547,Disorder,1
6043,1351,1052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052,Mosaic variegated aneuploidy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1346,1040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040,Metaphyseal anadysplasia,21394,Disease,36547,Disorder,2
6043,1347,1041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041,Hydrops fetalis,21401,Malformation syndrome,36547,Disorder,4
6043,1344,1037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037,Arthrogryposis multiplex congenita,21436,Clinical group,36540,Group of disorders,4
6043,1405,1126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126,Aprosencephaly cerebellar dysgenesis,21401,Malformation syndrome,36547,Disorder,2
6043,1404,1125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125,"Ocular motor apraxia, Cogan type",21394,Disease,36547,Disorder,2
6043,1401,1121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121,Radial deficiency-tibial hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1400,1120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120,Lung agenesis-heart defect-thumb anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1402,1122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122,Ulnar hypoplasia-split foot syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1397,1116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,21394,Disease,36547,Disorder,2
6043,1399,1118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118,Fibular aplasia-ectrodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1398,1117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117,Aplasia cutis-myopia syndrome,21394,Disease,36547,Disorder,2
6043,1392,1110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1395,1113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113,Aphalangy-syndactyly-microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1394,1112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1388,1106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106,Microphthalmia with limb anomalies,21401,Malformation syndrome,36547,Disorder,2
6043,1391,83,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83,Antley-Bixler syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1387,1104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104,Anophthalmia plus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1380,1094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094,Anonychia-microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1306,991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991,PAGOD syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1305,990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990,Agnathia-holoprosencephaly-situs inversus syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1304,989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989,Hypoglossia-hypodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1310,994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994,Fetal akinesia deformation sequence,21401,Malformation syndrome,36547,Disorder,2
6043,1309,51,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51,Aicardi-Goutières syndrome,21394,Disease,36547,Disorder,2
6043,1299,981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981,Internal carotid absence,21415,Morphological anomaly,36547,Disorder,2
6043,1297,978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978,ADULT syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1296,977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977,Adrenomyodystrophy,21394,Disease,36547,Disorder,2
6043,1300,983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983,Testicular regression syndrome,21415,Morphological anomaly,36547,Disorder,1
6043,1290,970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970,Hereditary sensory and autonomic neuropathy type 2,21394,Disease,36547,Disorder,2
6043,1291,971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971,Acrorenal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1288,40,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40,"Acromesomelic dysplasia, Maroteaux type",21401,Malformation syndrome,36547,Disorder,2
6043,1289,969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969,Acromicric dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1294,974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974,Adams-Oliver syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1293,973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973,"Congenital absence/hypoplasia of fingers excluding thumb, unilateral",21415,Morphological anomaly,36547,Disorder,2
6043,1280,959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959,Acro-renal-ocular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1287,968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968,"Acromesomelic dysplasia, Hunter-Thompson type",21401,Malformation syndrome,36547,Disorder,2
6043,1284,965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=965,Acromegaloid facial appearance syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1285,966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=966,Hypertrichosis-acromegaloid facial appearance syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16888,139411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411,Carney triad,21394,Disease,36547,Disorder,2
6043,16889,139414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414,Congenital panfollicular nevus,21394,Disease,36547,Disorder,2
6043,1336,1028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028,Amelo-onycho-hypohidrotic syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16890,139417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417,Acute transverse myelitis,21394,Disease,36547,Disorder,2
6043,1339,1031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031,Enamel-renal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16891,139420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139420,Secondary acute transverse myelitis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,16892,139423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423,Idiopathic acute transverse myelitis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,16893,139426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426,Perioral myoclonia with absences,21394,Disease,36547,Disorder,2
6043,16894,139431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431,Jeavons syndrome,21394,Disease,36547,Disorder,1
6043,1342,1035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035,Beta-mercaptolactate cysteine disulfiduria,21408,Biological anomaly,36547,Disorder,2
6043,16895,139436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436,Multicentric reticulohistiocytosis,21394,Disease,36547,Disorder,2
6043,1329,1021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021,Amaurosis-hypertrichosis syndrome,21394,Disease,36547,Disorder,2
6043,1328,64,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64,Alström syndrome,21394,Disease,36547,Disorder,2
6043,1331,1023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023,"Congenital generalized hypertrichosis, Ambras type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,16884,139396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396,X-linked cerebral adrenoleukodystrophy,21450,Clinical subtype,36554,Subtype of disorder,1
6043,16886,139402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402,Drug rash with eosinophilia and systemic symptoms,21394,Disease,36547,Disorder,1
6043,1335,1027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027,Autosomal recessive amelia,21401,Malformation syndrome,36547,Disorder,2
6043,16887,139406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406,Encephalopathy due to prosaposin deficiency,21394,Disease,36547,Disorder,2
6043,1320,1008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,1321,701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701,Alopecia universalis,21394,Disease,36547,Disorder,1
6043,1323,1010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,21394,Disease,36547,Disorder,2
6043,1327,1014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,21394,Disease,36547,Disorder,2
6043,1313,1001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001,2q37 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1315,59,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59,Allan-Herndon-Dudley syndrome,21394,Disease,36547,Disorder,3
6043,1316,1003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003,Scalp defects-postaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1318,1005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1494,1253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253,Ascher syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1493,1252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252,Blepharonasofacial malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1490,1248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248,Maxillonasal dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,1502,127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127,Borjeson-Forssman-Lehmann syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1503,1264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264,Tricho-retino-dento-digital syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1500,1262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262,Böök syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1501,1263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263,Boomerang dysplasia,21394,Disease,36547,Disorder,2
6043,1498,1259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259,Blepharoptosis-myopia-ectopia lentis syndrome,21394,Disease,36547,Disorder,2
6043,1499,1261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261,Bonnemann-Meinecke-Reich syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1478,1234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234,Bartsocas-Papas syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1476,1231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231,Barber-Say syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1474,1229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229,Congenital intrauterine infection-like syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1473,109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109,Bannayan-Riley-Ruvalcaba syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1472,1228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228,Banki syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1487,1241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241,Bencze syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1486,1240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240,Metaphyseal acroscyphodysplasia,21394,Disease,36547,Disorder,2
6043,1483,1237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237,Beemer-Ertbruggen syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1482,114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114,Auriculoosteodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1481,115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115,Congenital contractural arachnodactyly,21401,Malformation syndrome,36547,Disorder,1
6043,1480,1236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16693,137622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1525,1292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292,Brachymorphism-onychodysplasia-dysphalangism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16695,137628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628,Cardiac anomalies-heterotaxy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1526,1293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293,Brachyolmia,21436,Clinical group,36540,Group of disorders,2
6043,16694,137625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,21394,Disease,36547,Disorder,2
6043,1533,1299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299,Branchioskeletogenital syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1534,1300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300,Autosomal dominant popliteal pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16702,137667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667,Capillary malformation-arteriovenous malformation,21401,Malformation syndrome,36547,Disorder,2
6043,16697,137634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1528,1295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16696,137631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",21394,Disease,36547,Disorder,2
6043,1529,1296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296,Lambert syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1530,1297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297,Branchio-oculo-facial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16698,137639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,16677,137577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577,Neonatal hypoxic and ischemic brain injury,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,16678,137583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583,Vulvar intraepithelial neoplasia,21394,Disease,36547,Disorder,1
6043,1511,1276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276,Brachydactyly-arterial hypertension syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1510,1275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275,Brachydactyly-elbow wrist dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1506,1270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270,Bowen-Conradi syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,16684,137605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605,Legius syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16681,137596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596,Neurotrophic keratopathy,21394,Disease,36547,Disorder,2
6043,1512,1278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278,Brachydactyly-preaxial hallux varus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16682,137599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599,Herpes simplex virus stromal keratitis,21394,Disease,36547,Disorder,2
6043,1426,1166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166,Congenital unilateral hypoplasia of depressor anguli oris,21415,Morphological anomaly,36547,Disorder,1
6043,1427,1168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168,Ataxia-oculomotor apraxia type 1,21394,Disease,36547,Disorder,1
6043,1424,1160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160,Chylous ascites,21394,Disease,36547,Disorder,1
6043,16721,137817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817,Arachnoiditis,21394,Disease,36547,Disorder,1
6043,1431,1174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174,Cerebellar ataxia-ectodermal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,16726,137839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137839,Lemierre syndrome,21394,Disease,36547,Disorder,3
6043,16725,137834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834,Frank-Ter Haar syndrome,21394,Disease,36547,Disorder,2
6043,16724,137831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,21394,Disease,36547,Disorder,2
6043,1429,1170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170,Autosomal recessive cerebelloparenchymal disorder type 3,21394,Disease,36547,Disorder,1
6043,1435,1178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178,Ataxia-tapetoretinal degeneration syndrome,21394,Disease,36547,Disorder,1
6043,1433,1175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175,X-linked progressive cerebellar ataxia,21394,Disease,36547,Disorder,1
6043,1438,1180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,21394,Disease,36547,Disorder,1
6043,1436,1179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179,Benign paroxysmal tonic upgaze of childhood with ataxia,21394,Disease,36547,Disorder,2
6043,1437,1173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173,Cerebellar ataxia-hypogonadism syndrome,21394,Disease,36547,Disorder,1
6043,16732,137867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867,Madras motor neuron disease,21394,Disease,36547,Disorder,2
6043,16706,137681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,21394,Disease,36547,Disorder,2
6043,1409,1133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133,AREDYLD syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16704,137675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675,Histiocytoid cardiomyopathy,21394,Disease,36547,Disorder,1
6043,1408,1131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131,X-linked mandibulofacial dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,16705,137678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678,"Czech dysplasia, metatarsal type",21394,Disease,36547,Disorder,2
6043,16710,137698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137698,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,16711,137754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754,Neurological conditions associated with aminoacylase 1 deficiency,21394,Disease,36547,Disorder,2
6043,1414,1145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145,Infantile-onset X-linked spinal muscular atrophy,21394,Disease,36547,Disorder,2
6043,16708,137686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686,Asherman syndrome,21394,Disease,36547,Disorder,1
6043,1413,1144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16715,137776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776,Lethal congenital contracture syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,1417,1150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150,Arthrogryposis multiplex congenita-whistling face syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1416,1149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149,Kuskokwim syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16718,137807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807,Primary cutaneous amyloidosis,21436,Clinical group,36540,Group of disorders,2
6043,1423,1159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159,Progressive pseudorheumatoid arthropathy of childhood,21394,Disease,36547,Disorder,1
6043,16716,137783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783,Lethal congenital contracture syndrome type 3,21401,Malformation syndrome,36547,Disorder,2
6043,1460,1214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214,Progressive hemifacial atrophy,21394,Disease,36547,Disorder,2
6043,1461,1215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215,Autosomal dominant optic atrophy plus syndrome,21394,Disease,36547,Disorder,2
6043,16760,138044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044,Rare disease with Pierre Robin syndrome,36561,Category,36540,Group of disorders,2
6043,1466,1221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221,Cheilitis glandularis,21394,Disease,36547,Disorder,2
6043,1469,1225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225,Baller-Gerold syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1470,1226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226,Bamforth-Lazarus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1471,1227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227,Bangstad syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1441,1184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184,Ataxia-photosensitivity-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1440,1182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182,Spastic ataxia with congenital miosis,21394,Disease,36547,Disorder,2
6043,16737,137888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888,Auriculocondylar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1443,1186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186,Infantile-onset spinocerebellar ataxia,21394,Disease,36547,Disorder,2
6043,1442,1185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185,Spinocerebellar ataxia-dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,16739,137898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,21394,Disease,36547,Disorder,2
6043,1445,1188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188,Ataxia-deafness-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1444,1187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187,Lethal ataxia with deafness and optic atrophy,21394,Disease,36547,Disorder,2
6043,1447,1190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190,Atelosteogenesis type I,21401,Malformation syndrome,36547,Disorder,1
6043,16742,137908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908,Hypotonia with lactic acidemia and hyperammonemia,21394,Disease,36547,Disorder,2
6043,16743,137911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137911,Autism-facial port-wine stain syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16744,137914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914,Choanal atresia,21415,Morphological anomaly,36547,Disorder,17
6043,1449,1193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193,Atkin-Flaitz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16745,137917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917,"Choanal atresia, unilateral",21450,Clinical subtype,36554,Subtype of disorder,2
6043,1451,1200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16746,137920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920,"Choanal atresia, bilateral",21450,Clinical subtype,36554,Subtype of disorder,1
6043,1450,1198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198,Colonic atresia,21415,Morphological anomaly,36547,Disorder,4
6043,1452,1203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203,Duodenal atresia,21415,Morphological anomaly,36547,Disorder,28
6043,1455,1208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208,Pulmonary atresia-intact ventricular septum syndrome,21415,Morphological anomaly,36547,Disorder,2
6043,1642,1449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449,Ring chromosome 7 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1643,1453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453,Cleidorhizomelic syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1640,1440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440,Ring chromosome 14 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1641,1443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443,Ring chromosome 19 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17070,141258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258,Tessier number 4 facial cleft,21415,Morphological anomaly,36547,Disorder,2
6043,1647,1458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458,CODAS syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17069,141253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253,Oblique facial cleft,21436,Clinical group,36540,Group of disorders,3
6043,1644,1454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454,Joubert syndrome with hepatic defect,21394,Disease,36547,Disorder,2
6043,1645,190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190,Coats disease,21394,Disease,36547,Disorder,2
6043,1632,1426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426,Greenberg dysplasia,21394,Disease,36547,Disorder,2
6043,17056,141184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184,Rapidly involuting congenital hemangioma,21394,Disease,36547,Disorder,1
6043,1633,1427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427,Otospondylomegaepiphyseal dysplasia,21394,Disease,36547,Disorder,2
6043,1638,1435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435,Xq21 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1639,1436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436,X-linked skeletal dysplasia-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1637,1433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433,Choroidal atrophy-alopecia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1659,1484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17080,141333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333,Biemond syndrome type 2,21394,Disease,36547,Disorder,1
6043,1663,1490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490,Corneal dystrophy-perceptive deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1662,1487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487,Cooks syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1660,1486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486,Lethal congenital contracture syndrome type 1,21401,Malformation syndrome,36547,Disorder,1
6043,1649,1466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466,COFS syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,17078,141327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327,Orofaciodigital syndrome type 12,21401,Malformation syndrome,36547,Disorder,2
6043,17079,141330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330,Orofaciodigital syndrome type 13,21401,Malformation syndrome,36547,Disorder,2
6043,1654,1471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471,Coloboma of macula-brachydactyly type B syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17077,141291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291,Cleft lip and alveolus,21415,Morphological anomaly,36547,Disorder,1
6043,17033,141091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091,Polyrrhinia,21401,Malformation syndrome,36547,Disorder,1
6043,17032,141083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083,Nasolacrimal duct cyst,21415,Morphological anomaly,36547,Disorder,2
6043,1610,1410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410,Uncombable hair syndrome,21394,Disease,36547,Disorder,1
6043,17035,141099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099,Proboscis lateralis,21401,Malformation syndrome,36547,Disorder,1
6043,17034,141096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096,Supernumerary nostril,21401,Malformation syndrome,36547,Disorder,2
6043,1612,1412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412,Tarsal-carpal coalition syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1614,1416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416,Familial calcium pyrophosphate deposition,21394,Disease,36547,Disorder,2
6043,1600,1394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394,Cerebrofaciothoracic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1604,1397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397,Hydrocephaly-cerebellar agenesis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1605,1398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398,Isolated cerebellar agenesis,21415,Morphological anomaly,36547,Disorder,1
6043,1606,1399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399,Richards-Rundle syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,17031,141077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077,Epignathus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,1607,1401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401,CHAND syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,17048,141152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152,Isolated congenital hypoglossia/aglossia,21415,Morphological anomaly,36547,Disorder,1
6043,1624,174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174,"Metaphyseal chondrodysplasia, Schmid type",21394,Disease,36547,Disorder,1
6043,17051,141163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163,Glossopalatine ankylosis,21401,Malformation syndrome,36547,Disorder,2
6043,1631,1425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425,Desbuquois syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17055,141179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179,Non-involuting congenital hemangioma,21394,Disease,36547,Disorder,1
6043,17043,141127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127,Congenital tracheal stenosis,21415,Morphological anomaly,36547,Disorder,1
6043,17046,141145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145,Hemifacial hyperplasia,21401,Malformation syndrome,36547,Disorder,1
6043,17047,141148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148,Hemifacial myohyperplasia,21401,Malformation syndrome,36547,Disorder,2
6043,17135,156728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",21394,Disease,36547,Disorder,2
6043,1582,1375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375,Cataract-hypertrichosis-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1580,163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163,Hereditary hyperferritinemia-cataract syndrome,21394,Disease,36547,Disorder,2
6043,1579,1373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373,Cataract-aberrant oral frenula-growth delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1575,1368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368,Cataract-ataxia-deafness syndrome,21394,Disease,36547,Disorder,2
6043,1573,1366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,21394,Disease,36547,Disorder,2
6043,1569,1361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361,Carnosinase deficiency,21408,Biological anomaly,36547,Disorder,3
6043,1599,1393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393,Cerebrocostomandibular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17151,157826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826,Congenital epulis,21394,Disease,36547,Disorder,1
6043,1596,1390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390,Night blindness-skeletal anomalies-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17149,157820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820,Cold-induced sweating syndrome,21394,Disease,36547,Disorder,2
6043,1595,1389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389,Cortical blindness-intellectual disability-polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17146,157798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798,Serrated polyposis syndrome,21394,Disease,36547,Disorder,2
6043,1594,1388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388,Catel-Manzke syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17147,157801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801,Mesoaxial synostotic syndactyly with phalangeal reduction,21415,Morphological anomaly,36547,Disorder,2
6043,1593,1387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387,Cataract-intellectual disability-hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17144,157791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791,Epithelioid hemangioendothelioma,21394,Disease,36547,Disorder,1
6043,1588,1381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381,Cataract-intellectual disability-anal atresia-urinary defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1587,1380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380,Cataract-nephropathy-encephalopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1584,1377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377,Cataract-microcornea syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17137,157215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215,Hereditary hypophosphatemic rickets with hypercalciuria,21394,Disease,36547,Disorder,1
6043,1548,1325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325,Camptodactyly-taurinuria syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1549,1326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326,"Camptodactyly syndrome, Guadalajara type 2",21401,Malformation syndrome,36547,Disorder,2
6043,1550,1327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327,"Camptodactyly syndrome, Guadalajara type 1",21401,Malformation syndrome,36547,Disorder,2
6043,1551,1328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328,Camurati-Engelmann disease,21401,Malformation syndrome,36547,Disorder,2
6043,1544,1321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321,Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1546,1323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323,Camptodactyly-joint contractures-facial skeletal defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17099,156152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,21436,Clinical group,36540,Group of disorders,4
6043,1540,1314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314,Symmetrical thalamic calcifications,21394,Disease,36547,Disorder,2
6043,1542,1318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318,"Campomelia, Cumming type",21401,Malformation syndrome,36547,Disorder,2
6043,1543,1319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319,Camptobrachydactyly,21401,Malformation syndrome,36547,Disorder,2
6043,1536,1305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305,Feingold syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1537,1307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307,Distal limb deficiencies-micrognathia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1539,1313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313,Infantile choroidocerebral calcification syndrome,21394,Disease,36547,Disorder,2
6043,1565,1350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350,Heart-hand syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,1567,1355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355,Congenital heart defect-round face-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1566,1352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1561,1342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342,Heart-hand syndrome type 3,21401,Malformation syndrome,36547,Disorder,2
6043,1563,1345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345,Cardiomyopathy-cataract-hip spine disease syndrome,21394,Disease,36547,Disorder,2
6043,1557,1338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1559,1340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340,Cardiofaciocutaneous syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1553,2856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856,Persistent Müllerian duct syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1555,1336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336,Hyperkeratosis-hyperpigmentation syndrome,21394,Disease,36547,Disorder,2
6043,1554,1335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335,Pentalogy of Cantrell,21401,Malformation syndrome,36547,Disorder,3
6043,1762,1682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1682,Arterial dissection-lentiginosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1773,1757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757,Fibular dimelia-diplopodia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1772,1756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756,Caudal duplication,21401,Malformation syndrome,36547,Disorder,1
6043,1776,1765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765,Dyschondrosteosis-nephritis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1777,1766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766,Dysequilibrium syndrome,21394,Disease,36547,Disorder,2
6043,1782,1777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777,Temtamy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1783,1780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780,Thakker-Donnai syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1780,1772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772,"45,X/46,XY mixed gonadal dysgenesis",21401,Malformation syndrome,36547,Disorder,1
6043,1786,1784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784,Acrofrontofacionasal dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,1784,1782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782,Dysosteosclerosis,21401,Malformation syndrome,36547,Disorder,1
6043,1790,1790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790,Hypomandibular faciocranial dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,1788,1786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786,"Acrofacial dysostosis, Catania type",21401,Malformation syndrome,36547,Disorder,2
6043,1789,1788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788,"Acrofacial dysostosis, Rodríguez type",21401,Malformation syndrome,36547,Disorder,2
6043,1729,859,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859,Transcobalamin deficiency,21394,Disease,36547,Disorder,2
6043,16896,139441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441,Hypomyelination with atrophy of basal ganglia and cerebellum,21394,Disease,36547,Disorder,2
6043,1728,3196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,21394,Disease,36547,Disorder,2
6043,16897,139444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,21394,Disease,36547,Disorder,2
6043,16898,139447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447,Progressive cavitating leukoencephalopathy,21394,Disease,36547,Disorder,2
6043,1731,1573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573,Hypotrichosis with juvenile macular degeneration,21401,Malformation syndrome,36547,Disorder,2
6043,1730,726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726,Alpers-Huttenlocher syndrome,21394,Disease,36547,Disorder,2
6043,16899,139450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16900,139455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455,Autosomal recessive bestrophinopathy,21394,Disease,36547,Disorder,2
6043,1732,1574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16903,139466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466,SERKAL syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1737,1596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596,Distal monosomy 15q,21401,Malformation syndrome,36547,Disorder,2
6043,16904,139471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471,Microphthalmia with brain and digit anomalies,21401,Malformation syndrome,36547,Disorder,2
6043,16905,139474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474,17q11.2 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1739,1617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617,2q24 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1738,1606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606,1p36 deletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16907,139480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480,Autosomal recessive spastic paraplegia type 39,21394,Disease,36547,Disorder,2
6043,1741,1647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647,Oculocerebrocutaneous syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16908,139485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485,Autosomal recessive ataxia due to ubiquinone deficiency,21394,Disease,36547,Disorder,2
6043,16909,139491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139491,Hemochromatosis type 4,21394,Disease,36547,Disorder,2
6043,1743,1653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653,Dentin dysplasia,21394,Disease,36547,Disorder,1
6043,16913,139515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515,Charcot-Marie-Tooth disease type 4J,21394,Disease,36547,Disorder,2
6043,16912,139512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512,Neuropathy with hearing impairment,21394,Disease,36547,Disorder,2
6043,1745,1657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657,"Dermatoosteolysis, Kirghizian type",21401,Malformation syndrome,36547,Disorder,2
6043,16915,139525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525,Distal hereditary motor neuropathy type 2,21394,Disease,36547,Disorder,2
6043,1746,1658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658,Absence of fingerprints-congenital milia syndrome,21394,Disease,36547,Disorder,2
6043,1747,1659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659,Dermatoleukodystrophy,21394,Disease,36547,Disorder,2
6043,16917,139547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547,Distal spinal muscular atrophy type 3,21394,Disease,36547,Disorder,2
6043,1749,1660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660,Dermoodontodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,16919,139557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557,X-linked distal spinal muscular atrophy type 3,21394,Disease,36547,Disorder,2
6043,1750,1661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661,X-linked corneal dermoid,21394,Disease,36547,Disorder,2
6043,1751,1662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662,Restrictive dermopathy,21394,Disease,36547,Disorder,2
6043,16918,139552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552,"Distal hereditary motor neuropathy, Jerash type",21394,Disease,36547,Disorder,2
6043,16921,139573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,21394,Disease,36547,Disorder,2
6043,16920,139564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564,Hereditary sensory and autonomic neuropathy type 1B,21394,Disease,36547,Disorder,2
6043,16923,139583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583,X-linked hereditary sensory and autonomic neuropathy with deafness,21394,Disease,36547,Disorder,2
6043,1754,1667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667,Wolcott-Rallison syndrome,21394,Disease,36547,Disorder,2
6043,16922,139578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,21394,Disease,36547,Disorder,2
6043,1757,1671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671,Split cord malformation type I,21450,Clinical subtype,36554,Subtype of disorder,1
6043,16998,140917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917,Stapes ankylosis with broad thumbs and toes,21401,Malformation syndrome,36547,Disorder,2
6043,1703,1548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1702,1547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16999,140922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922,Titin-related  limb-girdle muscular dystrophy R10,21394,Disease,36547,Disorder,2
6043,1701,1545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545,Crisponi syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1699,1540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540,Jackson-Weiss syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1697,1533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1533,Craniosynostosis-fibular aplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16992,140874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874,Joubert syndrome and related disorders,36561,Category,36540,Group of disorders,5
6043,16993,140896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896,Severe acute respiratory syndrome,21394,Disease,36547,Disorder,2
6043,1696,1532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532,Gómez-López-Hernández syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17006,140952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17007,140957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957,Autosomal dominant macrothrombocytopenia,21394,Disease,36547,Disorder,2
6043,17004,140944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944,CLOVES syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17005,140949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949,Low-flow priapism,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,1707,1555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17002,140936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936,Lelis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17003,140941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941,Short stature due to primary acid-labile subunit deficiency,21394,Disease,36547,Disorder,1
6043,1705,1553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553,Curry-Jones syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17000,140927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927,Benign familial neonatal-infantile seizures,21394,Disease,36547,Disorder,2
6043,17001,140933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933,Linear atrophoderma of Moulin,21394,Disease,36547,Disorder,2
6043,17015,140989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989,Primary angiitis of the central nervous system,21394,Disease,36547,Disorder,2
6043,1718,1566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566,Dandy-Walker malformation-postaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17013,140976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976,RHYNS syndrome,21394,Disease,36547,Disorder,2
6043,1716,1563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563,Dahlberg-Borer-Newcomer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17012,140969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969,Saldino-Mainzer syndrome,21394,Disease,36547,Disorder,2
6043,17011,140966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966,"Palmoplantar keratoderma, Nagashima type",21394,Disease,36547,Disorder,2
6043,1715,1562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562,Dacryocystitis-osteopoikilosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17010,140963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963,Bilateral microtia-deafness-cleft palate syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1726,382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382,Guanidinoacetate methyltransferase deficiency,21394,Disease,36547,Disorder,2
6043,1727,742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742,Prolidase deficiency,21394,Disease,36547,Disorder,3
6043,1725,1979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979,Lipodystrophy due to peptidic growth factors deficiency,21394,Disease,36547,Disorder,2
6043,1722,1571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571,Knobloch syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,17018,141007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007,Orofaciodigital syndrome type 9,21401,Malformation syndrome,36547,Disorder,2
6043,1723,1551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551,Familial benign copper deficiency,21394,Disease,36547,Disorder,2
6043,1720,1568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17017,141000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000,Orofaciodigital syndrome type 11,21401,Malformation syndrome,36547,Disorder,1
6043,1668,1497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497,X-linked complicated corpus callosum dysgenesis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1665,1493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493,Vici syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1667,1495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1676,1509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509,Coxopodopatellar syndrome,21394,Disease,36547,Disorder,2
6043,1679,1512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512,Crane-Heise syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1673,1506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506,Thin ribs-tubular bones-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1675,1508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508,Coxoauricular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1674,1507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507,Autosomal recessive Robinow syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1684,1517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517,"Hypertrichotic osteochondrodysplasia, Cantu type",21401,Malformation syndrome,36547,Disorder,2
6043,1686,1519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519,"Hypertelorism, Teebi type",21401,Malformation syndrome,36547,Disorder,2
6043,1687,1520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520,Craniofrontonasal dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,1680,1513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513,Craniodiaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1681,1514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514,Craniodigital-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,16976,140481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481,Autosomal dominant slowed nerve conduction velocity,21394,Disease,36547,Disorder,2
6043,1682,1515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515,Cranioectodermal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1683,1516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516,Craniofacial dyssynostosis,21401,Malformation syndrome,36547,Disorder,4
6043,1693,1527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527,"Craniosynostosis, Philadelphia type",21401,Malformation syndrome,36547,Disorder,2
6043,1694,1528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528,Craniotelencephalic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1695,1529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529,Craniofacial-deafness-hand syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1688,1521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1689,1522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522,Craniometaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1691,1525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525,Cranio-osteoarthropathy,21401,Malformation syndrome,36547,Disorder,2
6043,1913,1969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1912,1968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968,Flat face-microstomia-ear anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1914,1970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1917,1973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973,Faciocardiorenal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1916,1972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972,Lethal faciocardiomelic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1918,1974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974,Autosomal recessive faciodigitogenital syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1907,1962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962,Exostoses-anetodermia-brachydactyly type E syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1908,1964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1896,1822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822,Dysplasia epiphysealis hemimelica,21401,Malformation syndrome,36547,Disorder,1
6043,1897,1824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824,Lowry-Wood syndrome,21394,Disease,36547,Disorder,2
6043,1899,1952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952,Pacman dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1901,1954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954,Congenital lethal erythroderma,21394,Disease,36547,Disorder,2
6043,1902,1955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955,Spinocerebellar ataxia type 34,21394,Disease,36547,Disorder,2
6043,1888,1926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926,Diabetic embryopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1889,2209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209,Maternal phenylketonuria,21401,Malformation syndrome,36547,Disorder,2
6043,1890,1927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927,Emery-Nelson syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1891,1937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937,Eng-Strom syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1882,1920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920,Toluene embryopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1881,1919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919,Phenobarbital embryopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1880,1917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917,Fetal methylmercury syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1885,1923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923,Methimazole embryofetopathy,21401,Malformation syndrome,36547,Disorder,2
6043,1875,1912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912,Fetal hydantoin syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1874,1918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918,Fetal minoxidil syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1873,1911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911,Cocaine embryofetopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1872,1910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910,Fetal iodine syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1879,1916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916,Diethylstilbestrol syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1878,294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294,Fetal cytomegalovirus syndrome,21394,Disease,36547,Disorder,1
6043,1877,1914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914,Vitamin K antagonist embryofetopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1876,1913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913,Fetal trimethadione syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1864,1896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896,EEC syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1865,1897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897,EEM syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1870,1908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908,Aminopterin/methotrexate embryofetopathy,21401,Malformation syndrome,36547,Disorder,2
6043,1871,1909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909,Indomethacin embryofetopathy,21401,Malformation syndrome,36547,Disorder,1
6043,1868,1906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906,Fetal valproate spectrum disorder,21401,Malformation syndrome,36547,Disorder,8
6043,1863,1895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895,Edinburgh malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1860,1891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891,Intellectual disability-spasticity-ectrodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1861,1892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892,Ectrodactyly-polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1853,1816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1855,1807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807,Focal facial dermal dysplasia type III,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1854,1818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818,"Ectodermal dysplasia, trichoodontoonychial type",21401,Malformation syndrome,36547,Disorder,2
6043,1851,1883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883,Ectodermal dysplasia-sensorineural deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1850,1882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1845,1875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,21394,Disease,36547,Disorder,2
6043,1844,1873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873,Jalili syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1847,1879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879,Melorheostosis with osteopoikilosis,21401,Malformation syndrome,36547,Disorder,2
6043,1840,1867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867,"Hereditary bullous dystrophy, macular type",21394,Disease,36547,Disorder,2
6043,1843,1872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872,Cone rod dystrophy,21394,Disease,36547,Disorder,1
6043,1842,1871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871,Progressive cone dystrophy,21394,Disease,36547,Disorder,1
6043,1837,1860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860,Thanatophoric dysplasia type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,1838,1861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861,Thoracic dysplasia-hydrocephalus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1839,1865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865,"Dyssegmental dysplasia, Silverman-Handmaker type",21394,Disease,36547,Disorder,1
6043,1835,1858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858,Skeletal dysplasia-epilepsy-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1831,254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254,Spondylometaphyseal dysplasia,21436,Clinical group,36540,Group of disorders,2
6043,1826,1852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852,X-linked retinal dysplasia,21394,Disease,36547,Disorder,2
6043,1821,1842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842,"Bone dysplasia, lethal Holmgren type",21401,Malformation syndrome,36547,Disorder,2
6043,1818,1839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839,Hereditary mucoepithelial dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,1816,1837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837,Ulna metaphyseal dysplasia syndrome,21394,Disease,36547,Disorder,2
6043,1815,1836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836,"Mesomelic dysplasia, Kantaputra type",21401,Malformation syndrome,36547,Disorder,2
6043,1814,1834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834,Axial mesodermal dysplasia spectrum,21401,Malformation syndrome,36547,Disorder,1
6043,1812,1830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830,Schimke immuno-osseous dysplasia,21394,Disease,36547,Disorder,2
6043,1811,1825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1809,251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251,Multiple epiphyseal dysplasia,21436,Clinical group,36540,Group of disorders,1
6043,1804,1811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811,Odontomicronychial dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1805,1812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1802,1808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",21401,Malformation syndrome,36547,Disorder,2
6043,1803,1809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809,"Hidrotic ectodermal dysplasia, Halal type",21401,Malformation syndrome,36547,Disorder,2
6043,1801,1806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806,Ectodermal dysplasia-blindness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1798,1802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802,Ghosal hematodiaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,1799,1803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803,Thoracomelic dysplasia,21394,Disease,36547,Disorder,2
6043,1794,1798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798,"Dysostosis, Stanescu type",21401,Malformation syndrome,36547,Disorder,1
6043,1795,1799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799,Familial developmental dysphasia,21422,Clinical syndrome,36547,Disorder,2
6043,1793,1794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794,Oculomaxillofacial dysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,2035,2130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130,Hemimelia,21436,Clinical group,36540,Group of disorders,1
6043,2036,2136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136,Hennekam syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2037,2138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138,"46,XX ovotesticular disorder of sex development",21401,Malformation syndrome,36547,Disorder,3
6043,2038,2139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139,Hernández-Aguirre Negrete syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2040,2141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2043,2143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143,Donnai-Barrow syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2044,2145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145,"Craniosynostosis, Herrmann-Opitz type",21401,Malformation syndrome,36547,Disorder,2
6043,2046,2149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149,Nodular neuronal heterotopia,21415,Morphological anomaly,36547,Disorder,1
6043,2047,2148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148,Lissencephaly type 1 due to doublecortin gene mutation,21394,Disease,36547,Disorder,1
6043,17184,158048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048,Hemophagocytic syndrome associated with an infection,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,17185,158057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,2019,2108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108,Hallermann-Streiff syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,17186,158061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061,Macrophage activation syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,2018,2107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107,Hall-Riggs syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2021,2110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110,Hallux varus-preaxial polysyndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2020,2109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109,Hallermann-Streiff-like syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2022,2111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111,Cystic hamartoma of lung and kidney,21394,Disease,36547,Disorder,2
6043,2025,2115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115,Harrod syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2024,2114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114,"Hip dysplasia, Beukes type",21394,Disease,36547,Disorder,1
6043,2027,2994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2026,2117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117,Hartsfield syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2028,2119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119,HEC syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2030,2123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123,Diffuse neonatal hemangiomatosis,21401,Malformation syndrome,36547,Disorder,2
6043,17171,157997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997,Benign cephalic histiocytosis,21394,Disease,36547,Disorder,1
6043,2002,2090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090,GMS syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17170,157991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991,Generalized eruptive histiocytosis,21394,Disease,36547,Disorder,1
6043,2003,2091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091,Multinodular goiter-cystic kidney-polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2007,376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376,Gordon syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2004,2092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092,Focal dermal hypoplasia,21401,Malformation syndrome,36547,Disorder,2
6043,17172,158000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000,Juvenile xanthogranuloma,21394,Disease,36547,Disorder,1
6043,2010,2098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098,"Acromesomelic dysplasia, Grebe type",21401,Malformation syndrome,36547,Disorder,1
6043,17179,158025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025,Hereditary progressive mucinous histiocytosis,21394,Disease,36547,Disorder,2
6043,2011,380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380,Greig cephalopolysyndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2008,2095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095,Gorlin-Chaudhry-Moss syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17176,158014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014,Rosaï-Dorfman disease,21394,Disease,36547,Disorder,2
6043,2009,2097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097,Grant syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2014,2101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101,Grubben-de Cock-Borghgraef syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2015,2104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104,Dysmorphism-pectus carinatum-joint laxity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17181,158032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032,Hemophagocytic syndrome,36561,Category,36540,Group of disorders,1
6043,17180,158029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029,Sea-blue histiocytosis,21394,Disease,36547,Disorder,2
6043,1987,2069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069,Gastrocutaneous syndrome,21394,Disease,36547,Disorder,2
6043,17155,157846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846,Neuroferritinopathy,21394,Disease,36547,Disorder,2
6043,17152,157832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832,Craniorhiny,21401,Malformation syndrome,36547,Disorder,2
6043,1985,2067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067,GAPO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17153,157835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835,Paroxysmal hemicrania,21394,Disease,36547,Disorder,1
6043,1984,2065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065,Galloway-Mowat syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1991,2075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075,Genitopalatocardiac syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1990,2074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074,Gemignani syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17156,157850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850,Pantothenate kinase-associated neurodegeneration,21394,Disease,36547,Disorder,1
6043,1989,2072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,17162,157954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954,ANE syndrome,21394,Disease,36547,Disorder,2
6043,17163,157962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962,"Oculoauricular syndrome, Schorderet type",21401,Malformation syndrome,36547,Disorder,2
6043,17160,157946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946,Huntington disease-like 3,21394,Disease,36547,Disorder,1
6043,1993,2078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078,Geroderma osteodysplastica,21401,Malformation syndrome,36547,Disorder,2
6043,1992,2077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077,German syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17166,157973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973,Congenital muscular dystrophy due to LMNA mutation,21394,Disease,36547,Disorder,2
6043,1999,2085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085,Glaucoma-sleep apnea syndrome,21394,Disease,36547,Disorder,2
6043,1998,2084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17164,157965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1997,2083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083,Prominent glabella-microcephaly-hypogenitalism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1974,1791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791,Frontofacionasal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,1975,1826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826,Frontometaphyseal dysplasia,21394,Disease,36547,Disorder,2
6043,1968,2047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047,Flynn-Aird syndrome,21394,Disease,36547,Disorder,2
6043,1969,2048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048,Foix-Chavany-Marie syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1971,2050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050,Cole-Carpenter syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1982,2063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063,Splenogonadal fusion-limb defects-micrognathia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1983,2064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1976,250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250,Frontonasal dysplasia,21436,Clinical group,36540,Group of disorders,2
6043,1978,2057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1979,2059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059,Fryns syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,1957,2026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026,Gingival fibromatosis-hypertrichosis syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1956,2025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025,Gingival fibromatosis-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1959,2028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028,Juvenile hyaline fibromatosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,1958,2027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027,Gingival fibromatosis-progressive deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1953,2021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021,Fibrochondrogenesis,21394,Disease,36547,Disorder,2
6043,1952,2019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019,Femur-fibula-ulna complex,21401,Malformation syndrome,36547,Disorder,2
6043,1955,2024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024,Hereditary gingival fibromatosis,21401,Malformation syndrome,36547,Disorder,1
6043,1954,2022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022,Endocardial fibroelastosis,21394,Disease,36547,Disorder,1
6043,1965,2824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1967,2045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045,FLOTCH syndrome,21394,Disease,36547,Disorder,2
6043,1966,2044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044,Floating-Harbor syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,1961,2031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1962,2036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036,Scalp-ear-nipple syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1942,2006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006,Median cleft lip/mandibule,21415,Morphological anomaly,36547,Disorder,2
6043,1943,2007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1940,2003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003,Cleft lip/palate-deafness-sacral lipoma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17237,158687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687,Lethal acantholytic epidermolysis bullosa,21394,Disease,36547,Disorder,2
6043,17236,158684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684,Epidermolysis bullosa simplex with pyloric atresia,21394,Disease,36547,Disorder,1
6043,1941,2004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004,Laryngotracheoesophageal cleft,21415,Morphological anomaly,36547,Disorder,2
6043,1938,2001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17235,158681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681,Epidermolysis bullosa simplex with circinate migratory erythema,21394,Disease,36547,Disorder,1
6043,17234,158676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676,"Dominant dystrophic epidermolysis bullosa, nails only",21394,Disease,36547,Disorder,2
6043,17233,158673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673,Acral dystrophic epidermolysis bullosa,21394,Disease,36547,Disorder,2
6043,17232,158668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668,Epidermolysis bullosa simplex due to plakophilin deficiency,21394,Disease,36547,Disorder,1
6043,1950,2016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016,Cleft palate-lateral synechia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1951,2017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017,Sternal cleft,21415,Morphological anomaly,36547,Disorder,2
6043,1949,2013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013,Cleft palate-large ears-small head syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1946,2010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010,Cleft palate-stapes fixation-oligodontia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,17241,158775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775,Smoldering systemic mastocytosis,21394,Disease,36547,Disorder,1
6043,1945,2008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008,Acrocardiofacial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1926,1986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986,Gollop-Wolfgang complex,21401,Malformation syndrome,36547,Disorder,2
6043,1923,1980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980,Bilateral striopallidodentate calcinosis,21394,Disease,36547,Disorder,2
6043,1934,1997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997,Blepharo-cheilo-odontic syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1932,1995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995,Cleft lip-retinopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1931,1993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993,Pai syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,1928,1988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988,Femoral-facial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2200,2348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348,"Familial partial lipodystrophy, Dunnigan type",21394,Disease,36547,Disorder,1
6043,19545,247775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2201,2351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351,Kousseff syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19544,247768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768,Müllerian aplasia and hyperandrogenism,21401,Malformation syndrome,36547,Disorder,1
6043,2202,2353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353,Schilbach-Rott syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19546,247790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790,FTH1-related iron overload,21394,Disease,36547,Disorder,2
6043,19548,247794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794,Juvenile cataract-microcornea-renal glucosuria syndrome,21394,Disease,36547,Disorder,2
6043,19551,247815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815,Autosomal recessive ataxia due to PEX10 deficiency,21394,Disease,36547,Disorder,2
6043,2207,2363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363,Lacrimoauriculodentodigital syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19537,247691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,21394,Disease,36547,Disorder,1
6043,2192,2340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340,Keratosis follicularis spinulosa decalvans,21394,Disease,36547,Disorder,1
6043,19536,247685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685,Odontohypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2194,2342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342,Haim-Munk syndrome,21394,Disease,36547,Disorder,2
6043,19539,247709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709,Multiple endocrine neoplasia type 2B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2198,485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485,Kniest dysplasia,21394,Disease,36547,Disorder,1
6043,19542,247762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762,Lipoblastoma,21394,Disease,36547,Disorder,1
6043,2199,2347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347,Lethal Kniest-like dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,19528,247585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585,Citrullinemia type II,21394,Disease,36547,Disorder,1
6043,2185,2333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333,Kenny-Caffey syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19529,247598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598,Neonatal intrahepatic cholestasis due to citrin deficiency,21394,Disease,36547,Disorder,1
6043,2184,2332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332,KBG syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19530,247604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604,Juvenile primary lateral sclerosis,21394,Disease,36547,Disorder,2
6043,19531,247623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623,Perinatal lethal hypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19532,247638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638,Prenatal benign hypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2188,2337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337,Non-epidermolytic palmoplantar keratoderma,21394,Disease,36547,Disorder,1
6043,19533,247651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651,Infantile hypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19534,247667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667,Childhood-onset hypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2191,2339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19535,247676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676,Adult hypophosphatasia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2190,494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494,Keratoderma hereditarium mutilans,21394,Disease,36547,Disorder,2
6043,2177,2322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322,Kabuki syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,19521,247378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378,Autosomal recessive secondary polycythemia not associated with VHL gene,21394,Disease,36547,Disorder,1
6043,2176,2321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321,Jung syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2179,2324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324,Osteopenia-intellectual disability-sparse hair syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19522,247511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511,Autosomal dominant secondary polycythemia,21394,Disease,36547,Disorder,1
6043,2178,2323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323,Sanjad-Sakati syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19523,247522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,21394,Disease,36547,Disorder,2
6043,19524,247525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525,Citrullinemia type I,21394,Disease,36547,Disorder,5
6043,2183,2329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329,Karsch-Neugebauer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19527,247582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582,Citrin deficiency,36561,Category,36540,Group of disorders,1
6043,2182,2328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328,Kapur-Toriello syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2234,2408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408,Lowe-Kohn-Cohen syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2235,2409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409,Lowry-MacLean syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2232,2405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405,Thickened earlobes-conductive deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2233,2407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407,LOC syndrome,21394,Disease,36547,Disorder,2
6043,2239,2412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412,Dislocation of the hip-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2236,2575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,21394,Disease,36547,Disorder,2
6043,2237,2410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410,Hypergonadotropic hypogonadism-cataract syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2226,2399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399,Nasopalpebral lipoma-coloboma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2227,2400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400,Peripheral motor neuropathy-dysautonomia syndrome,21394,Disease,36547,Disorder,2
6043,2225,2396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396,Encephalocraniocutaneous lipomatosis,21394,Disease,36547,Disorder,2
6043,2219,2388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388,Choreoacanthocytosis,21394,Disease,36547,Disorder,1
6043,19562,248111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111,Juvenile Huntington disease,21394,Disease,36547,Disorder,2
6043,2217,2386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,21394,Disease,36547,Disorder,2
6043,19561,248095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095,Primary hypertrophic osteoarthropathy,21436,Clinical group,36540,Group of disorders,1
6043,2216,2379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379,Early-onset parkinsonism-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,2222,2391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391,Congenitally short costocoracoid ligament,21401,Malformation syndrome,36547,Disorder,2
6043,2221,2390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390,Lichtenstein syndrome,21394,Disease,36547,Disorder,2
6043,19554,247834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834,Occult macular dystrophy,21394,Disease,36547,Disorder,1
6043,2211,2371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371,Lethal Larsen-like syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2210,2369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369,Limb body wall complex,21401,Malformation syndrome,36547,Disorder,3
6043,19552,247820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820,Ectodermal dysplasia-syndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19553,247827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827,Ectodermal dysplasia-cutaneous syndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2215,2378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378,Laurin-Sandrow syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19559,247868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868,NLRP12-associated hereditary periodic fever syndrome,21394,Disease,36547,Disorder,2
6043,2213,2375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375,Laryngeal abductor paralysis-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2271,2457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457,Mandibuloacral dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2266,2451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451,Mucocutaneous venous malformations,21401,Malformation syndrome,36547,Disorder,1
6043,2260,2439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439,Patterson-Stevenson-Fontaine syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19477,244305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,21394,Disease,36547,Disorder,2
6043,19476,244283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283,Biliary atresia with splenic malformation syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2261,2440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440,Isolated split hand-split foot malformation,21401,Malformation syndrome,36547,Disorder,6
6043,19478,244310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310,RFT1-CDG,21394,Disease,36547,Disorder,2
6043,19473,244242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242,HELLP syndrome,21394,Disease,36547,Disorder,1
6043,2257,296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296,Ollier disease,21394,Disease,36547,Disorder,1
6043,2258,2437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437,Czeizel-Losonci syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19474,244275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275,De novo thrombotic microangiopathy after kidney transplantation,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,19468,243343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343,Dimethylglycine dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,2255,2435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,2249,2429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429,Macrocephaly-spastic paraplegia-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2251,2432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432,Macrosomia-microphthalmia-cleft palate syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2302,2489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489,Upper limb defect-eye and ear abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19519,247353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353,Generalized pustular psoriasis,21394,Disease,36547,Disorder,2
6043,19518,247262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262,Hyperphosphatasia-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,2300,2487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487,Lower limb malformation-hypospadias syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19517,247257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247257,Inhalational anthrax,21394,Disease,36547,Disorder,1
6043,19516,247245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245,Superficial siderosis,21394,Disease,36547,Disorder,2
6043,2298,2485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485,Melorheostosis,21401,Malformation syndrome,36547,Disorder,1
6043,19513,247234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234,Sporadic adult-onset ataxia of unknown etiology,21394,Disease,36547,Disorder,3
6043,2296,2483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483,Melkersson-Rosenthal syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19512,247203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203,Collecting duct carcinoma,21394,Disease,36547,Disorder,1
6043,2297,2484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484,Melnick-Needles syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19511,247198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198,Progressive cerebello-cerebral atrophy,21394,Disease,36547,Disorder,2
6043,2294,2481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481,Neurocutaneous melanocytosis,21394,Disease,36547,Disorder,1
6043,2295,2482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482,Melhem-Fahl syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19510,247165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165,Infantile mercury poisoning,21394,Disease,36547,Disorder,1
6043,2288,2475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475,White forelock with malformations,21401,Malformation syndrome,36547,Disorder,2
6043,2289,2476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2286,2473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473,McKusick-Kaufman syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,2284,2471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471,McDonough syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2283,2470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470,Matthew-Wood syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2279,561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561,Marshall-Smith syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2278,2464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464,"Marfanoid syndrome, De Silva type",21401,Malformation syndrome,36547,Disorder,2
6043,2277,559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559,Marinesco-Sjögren syndrome,21394,Disease,36547,Disorder,2
6043,2276,2463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2275,2462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462,Shprintzen-Goldberg syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2273,2461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461,Marden-Walker syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,19664,251630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630,Anaplastic oligodendroglioma,21394,Disease,36547,Disorder,2
6043,2065,2172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19666,251636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636,Ependymoma,21394,Disease,36547,Disorder,2
6043,19667,251639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639,Subependymoma,21394,Disease,36547,Disorder,1
6043,2069,2176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176,Infantile systemic hyalinosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19668,251643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643,Myxopapillary ependymoma,21394,Disease,36547,Disorder,2
6043,19669,251646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646,Anaplastic ependymoma,21394,Disease,36547,Disorder,1
6043,19670,251651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251651,Oligoastrocytic tumor,21436,Clinical group,36540,Group of disorders,2
6043,2071,2181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181,Hydrocephaly-tall stature-joint laxity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2070,2180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2072,2186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186,Hydrocephalus-blue sclerae-nephropathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19674,251671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671,Angiocentric glioma,21394,Disease,36547,Disorder,2
6043,2075,2189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189,Hydrolethalus,21401,Malformation syndrome,36547,Disorder,3
6043,19676,251679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679,Astroblastoma,21394,Disease,36547,Disorder,1
6043,2079,312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312,Autosomal dominant epidermolytic ichthyosis,21394,Disease,36547,Disorder,3
6043,2078,2196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,21394,Disease,36547,Disorder,2
6043,19679,251852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251852,Embryonal tumor of neuroepithelial tissue,36561,Category,36540,Group of disorders,1
6043,19649,251576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576,Gliosarcoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2050,2150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150,Hirschsprung disease-type D brachydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19651,251582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582,Gliomatosis cerebri,21394,Disease,36547,Disorder,1
6043,19650,251579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579,Giant cell glioblastoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2051,2152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152,Mowat-Wilson syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2052,2153,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19652,251589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589,Anaplastic astrocytoma,21394,Disease,36547,Disorder,1
6043,19655,251598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598,Protoplasmic astrocytoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2054,2155,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155,Hirschsprung disease-deafness-polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19654,251595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595,Diffuse astrocytoma,21394,Disease,36547,Disorder,1
6043,2057,2158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158,Histidinuria-renal tubular defect syndrome,21394,Disease,36547,Disorder,2
6043,19659,251612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612,Pilocytic astrocytoma,21394,Disease,36547,Disorder,1
6043,2058,2163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163,Holoprosencephaly-craniosynostosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19658,251607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607,Pleomorphic xanthoastrocytoma,21394,Disease,36547,Disorder,1
6043,2060,2165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165,Holoprosencephaly-caudal dysgenesis syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2061,2166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166,Holoprosencephaly-postaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19663,251627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627,Oligodendroglioma,21394,Disease,36547,Disorder,1
6043,2062,2167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167,Holzgreve syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2063,2169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169,Methylcobalamin deficiency type cblE,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2098,2222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222,Hypertrichosis lanuginosa congenita,21394,Disease,36547,Disorder,2
6043,2097,2220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220,Hypertrichosis cubiti,21401,Malformation syndrome,36547,Disorder,2
6043,2103,1051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051,Ramos-Arroyo syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2102,2228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228,Hypodontia-dysplasia of nails syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2100,2224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224,Hypertryptophanemia,21394,Disease,36547,Disorder,2
6043,2107,2232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,21394,Disease,36547,Disorder,2
6043,2105,2230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,21394,Disease,36547,Disorder,2
6043,2104,2229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2111,2238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238,Familial isolated hypoparathyroidism,21394,Disease,36547,Disorder,2
6043,2110,2237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2109,2235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,21394,Disease,36547,Disorder,2
6043,2108,2234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19682,251863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863,Desmoplastic/nodular medulloblastoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2080,2198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,21394,Disease,36547,Disorder,2
6043,19687,251883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251883,Medulloepithelioma of the central nervous system,21394,Disease,36547,Disorder,1
6043,2087,2206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206,Ankylosing vertebral hyperostosis with tylosis,21401,Malformation syndrome,36547,Disorder,2
6043,2084,2201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201,Palmoplantar keratoderma-spastic paralysis syndrome,21394,Disease,36547,Disorder,2
6043,2085,2202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202,Palmoplantar keratoderma-deafness syndrome,21394,Disease,36547,Disorder,2
6043,19684,251870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870,Central nervous system embryonal tumor,21436,Clinical group,36540,Group of disorders,1
6043,19690,251899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899,Choroid plexus carcinoma,21394,Disease,36547,Disorder,3
6043,2091,2213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213,Hypertelorism-microtia-facial clefting syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19689,251896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251896,Choroid plexus tumor,21436,Clinical group,36540,Group of disorders,1
6043,2089,2211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211,Hypertelorism-hypospadias-polysyndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2095,2218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218,Cervical hypertrichosis-peripheral neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,19693,251909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909,Pineoblastoma,21394,Disease,36547,Disorder,1
6043,2092,2215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215,Multiple pterygium-malignant hyperthermia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19604,251019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019,2q32q33 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2133,2266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266,"Hypotrichosis-intellectual disability, Lopes type",21394,Disease,36547,Disorder,2
6043,19605,251028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028,SATB2-associated syndrome due to a chromosomal rearrangement,21443,Etiological subtype,36554,Subtype of disorder,2
6043,2135,2269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,19607,251038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038,3q29 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19600,250999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999,1q41q42 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2129,2261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,19601,251004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004,Paternal uniparental disomy of chromosome 1,21401,Malformation syndrome,36547,Disorder,1
6043,19602,251009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009,Maternal uniparental disomy of chromosome 1,21401,Malformation syndrome,36547,Disorder,1
6043,2130,672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672,Pallister-Hall syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19603,251014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014,2q31.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2141,455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455,Superficial epidermolytic ichthyosis,21394,Disease,36547,Disorder,2
6043,19612,251061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061,7q31 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19613,251066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066,8p11.2 deletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2140,2272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272,Ichthyosis-oral and digital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19614,251071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071,8p23.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2143,2274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,21394,Disease,36547,Disorder,2
6043,19615,251076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076,8p23.1 duplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2142,2273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273,Ichthyosis follicularis-alopecia-photophobia syndrome,21394,Disease,36547,Disorder,2
6043,19608,251043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043,Ring chromosome 5 syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2137,165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165,Neutral lipid storage disease,21436,Clinical group,36540,Group of disorders,2
6043,19609,251046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046,6p22 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2136,139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139,CHILD syndrome,21394,Disease,36547,Disorder,2
6043,2139,457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457,Harlequin ichthyosis,21394,Disease,36547,Disorder,2
6043,2138,2271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,21394,Disease,36547,Disorder,2
6043,19611,251056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056,6q25 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2117,2246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2119,2249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249,Ulna hypoplasia-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2112,2239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2113,2241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19597,250984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984,Autosomal recessive Stickler syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2124,2256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19596,250977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977,AICA-ribosiduria,21394,Disease,36547,Disorder,2
6043,19599,250994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994,1q21.1 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19598,250989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989,1q21.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2120,2250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,21394,Disease,36547,Disorder,2
6043,19593,250923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923,Isolated aniridia,21415,Morphological anomaly,36547,Disorder,4
6043,2121,2251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2122,2252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19595,250972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972,Polymicrogyria with optic nerve hypoplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2123,2255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,21394,Disease,36547,Disorder,2
6043,19638,251380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,21394,Disease,36547,Disorder,2
6043,2167,2306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306,Isotretinoin-like syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19639,251383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383,CK syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2166,2305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305,Isotretinoin syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19636,251370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370,Sickle cell-hemoglobin D disease syndrome,21394,Disease,36547,Disorder,1
6043,19637,251375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375,Sickle cell-hemoglobin E disease syndrome,21394,Disease,36547,Disorder,1
6043,19634,251359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359,Sickle cell-beta-thalassemia disease syndrome,21394,Disease,36547,Disorder,1
6043,19635,251365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365,Sickle cell-hemoglobin C disease syndrome,21394,Disease,36547,Disorder,1
6043,2162,2295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295,Familial articular hypermobility syndrome,21394,Disease,36547,Disorder,1
6043,2160,2292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2292,Congenital bowing of long bones,21401,Malformation syndrome,36547,Disorder,1
6043,2175,2319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319,Juberg-Hayward syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19644,251523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523,Hyperzincemia and hypercalprotectinemia,21394,Disease,36547,Disorder,2
6043,2173,2316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316,Johnson neuroectodermal syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2172,2315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315,Johanson-Blizzard syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19642,251510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510,"46,XY partial gonadal dysgenesis",21401,Malformation syndrome,36547,Disorder,1
6043,19643,251515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515,Distal arthrogryposis type 10,21401,Malformation syndrome,36547,Disorder,2
6043,2170,2310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310,Absence deformity of leg-cataract syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2169,2309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309,Pachyonychia congenita,21394,Disease,36547,Disorder,2
6043,19640,251393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393,"Localized junctional epidermolysis bullosa, non-Herlitz type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,2168,2307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307,IVIC syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19623,251295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295,Pigmented paravenous retinochoroidal atrophy,21394,Disease,36547,Disorder,2
6043,19622,251290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290,Parietal foramina with clavicular hypoplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2151,2282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282,Dysmorphism-short stature-deafness-disorder of sex development syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19621,251287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287,Benign concentric annular macular dystrophy,21394,Disease,36547,Disorder,2
6043,19620,251282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282,Autosomal dominant spastic ataxia type 1,21394,Disease,36547,Disorder,2
6043,19619,251279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,21394,Disease,36547,Disorder,2
6043,19618,251274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274,Familial hyperaldosteronism type III,21394,Disease,36547,Disorder,2
6043,2147,2278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19616,251262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262,Familial osteochondritis dissecans,21394,Disease,36547,Disorder,1
6043,19631,251347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347,Ataxia-telangiectasia-like disorder,21394,Disease,36547,Disorder,1
6043,2156,2289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289,Neuronal intranuclear inclusion disease,21394,Disease,36547,Disorder,1
6043,2157,2290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290,Microvillus inclusion disease,21394,Disease,36547,Disorder,3
6043,2152,2285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285,Primary basilar invagination,21415,Morphological anomaly,36547,Disorder,1
6043,19625,251307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307,Idiopathic recurrent pericarditis,21394,Disease,36547,Disorder,1
6043,19624,251304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304,Infantile onset panniculitis with uveitis and systemic granulomatosis,21394,Disease,36547,Disorder,2
6043,2442,2674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674,Cyprus facial-neuromusculoskeletal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2441,2673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673,Neurofaciodigitorenal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2440,2672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672,Neuhauser-Eichner-Opitz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2446,2678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678,Neurofibromatosis type 6,21401,Malformation syndrome,36547,Disorder,1
6043,2435,2668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668,Nephropathy-deafness-hyperparathyroidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2434,2663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663,Nathalie syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2433,2662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662,Keipert syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2439,2671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671,Neu-Laxova syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2438,1475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475,Renal coloboma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2437,2670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670,Pierson syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2436,2669,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669,Nephrosis-deafness-urinary tract-digital malformations syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19803,254930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930,Combined oxidative phosphorylation defect type 7,21394,Disease,36547,Disorder,2
6043,19802,254925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925,Combined oxidative phosphorylation defect type 4,21394,Disease,36547,Disorder,2
6043,2459,2697,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19801,254920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920,Combined oxidative phosphorylation defect type 2,21394,Disease,36547,Disorder,2
6043,2457,2695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695,Bifid nose,21401,Malformation syndrome,36547,Disorder,1
6043,19807,255182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182,Pyruvate dehydrogenase E3-binding protein deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2462,2701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701,Noonan syndrome-like disorder with loose anagen hair,21401,Malformation syndrome,36547,Disorder,2
6043,19806,255138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138,Pyruvate dehydrogenase E1-beta deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19805,255132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132,Adult-onset autosomal recessive sideroblastic anemia,21394,Disease,36547,Disorder,2
6043,2460,2698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,21394,Disease,36547,Disorder,1
6043,2461,2699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699,Median nodule of the upper lip,21401,Malformation syndrome,36547,Disorder,2
6043,19793,254875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875,"Mitochondrial DNA depletion syndrome, myopathic form",21394,Disease,36547,Disorder,2
6043,2452,2690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690,Neutropenia-monocytopenia-deafness syndrome,21394,Disease,36547,Disorder,2
6043,19797,254898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,21394,Disease,36547,Disorder,2
6043,2473,2712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712,Oculofaciocardiodental syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2475,2714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714,Oculo-palato-cerebral syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2474,2713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713,Oculoosteocutaneous syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2476,2715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715,Severe oculo-renal-cerebellar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2479,2718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718,Oculotrichodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2478,2717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717,Oculotrichoanal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2465,2704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704,Ochoa syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2464,2703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19812,255229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229,Navajo neurohepatopathy,21394,Disease,36547,Disorder,2
6043,2468,2707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707,"Oculocerebrofacial syndrome, Kaufman type",21401,Malformation syndrome,36547,Disorder,2
6043,19813,255235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",21394,Disease,36547,Disorder,2
6043,2471,2710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710,Oculodentodigital dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2470,2709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709,"Oculodental syndrome, Rutherfurd type",21401,Malformation syndrome,36547,Disorder,2
6043,2489,2728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",21401,Malformation syndrome,36547,Disorder,2
6043,2490,2730,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730,Postaxial tetramelic oligodactyly,21401,Malformation syndrome,36547,Disorder,2
6043,2492,2732,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732,Olivopontocerebellar atrophy-deafness syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2493,2733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733,Omodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2480,2719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719,"Oculocerebral hypopigmentation syndrome, Cross type",21401,Malformation syndrome,36547,Disorder,2
6043,2481,2720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720,"Oculocerebral hypopigmentation syndrome, Preus type",21401,Malformation syndrome,36547,Disorder,2
6043,2482,2721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721,Odonto-onycho-dermal dysplasia,21394,Disease,36547,Disorder,2
6043,2483,2722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722,Odonto-onycho dysplasia-alopecia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2484,2723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723,Odontotrichomelic syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2485,2724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724,Odontomatosis-aortae esophagus stenosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2486,2725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2725,Eye defects-arachnodactyly-cardiopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2511,2755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755,Orofaciodigital syndrome type 8,21401,Malformation syndrome,36547,Disorder,2
6043,2510,2754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754,Orofaciodigital syndrome type 6,21401,Malformation syndrome,36547,Disorder,2
6043,19727,252164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164,Benign schwannoma,21394,Disease,36547,Disorder,1
6043,2509,2753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753,Orofaciodigital syndrome type 4,21401,Malformation syndrome,36547,Disorder,2
6043,2508,2752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752,Orofaciodigital syndrome type 3,21401,Malformation syndrome,36547,Disorder,2
6043,2507,2751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751,Orofaciodigital syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,2506,2750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750,Orofaciodigital syndrome type 1,21401,Malformation syndrome,36547,Disorder,3
6043,19720,252057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252057,Tumor of cranial and spinal nerves,36561,Category,36540,Group of disorders,1
6043,2503,2743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2501,2741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741,Ophthalmomandibulomelic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,19715,252028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252028,Primary melanocytic tumor of central nervous system,36561,Category,36540,Group of disorders,1
6043,2497,661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661,Ondine syndrome,21394,Disease,36547,Disorder,2
6043,2496,2736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736,Lethal omphalocele-cleft palate syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19743,254367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367,Rare lichen planus,36561,Category,36540,Group of disorders,1
6043,2526,2776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776,Autosomal recessive distal osteolysis syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2527,2777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777,Osteomesopyknosis,21401,Malformation syndrome,36547,Disorder,2
6043,19742,254361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361,Plectin-related  limb-girdle muscular dystrophy R17,21394,Disease,36547,Disorder,2
6043,2524,2774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,21401,Malformation syndrome,36547,Disorder,1
6043,19740,254351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351,Distal 7q11.23 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2522,2769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769,"Familial osteodysplasia, Anderson type",21401,Malformation syndrome,36547,Disorder,2
6043,19739,254346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346,19p13.12 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2523,2770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770,Nasu-Hakola disease,21401,Malformation syndrome,36547,Disorder,2
6043,19738,254343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,21394,Disease,36547,Disorder,2
6043,2520,2767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767,Carpotarsal osteochondromatosis,21401,Malformation syndrome,36547,Disorder,1
6043,19736,254334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,21394,Disease,36547,Disorder,2
6043,2521,2768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768,Blount disease,21401,Malformation syndrome,36547,Disorder,1
6043,19733,252212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212,Malignant triton tumor,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,2517,2763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763,Osteocraniostenosis,21401,Malformation syndrome,36547,Disorder,2
6043,2514,2759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759,Imperforate oropharynx-costovertebral anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2515,2760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760,OSLAM syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19728,252175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175,Vestibular schwannoma,21450,Clinical subtype,36554,Subtype of disorder,4
6043,19756,254516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516,Temple syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2541,2793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793,Otoonychoperoneal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19757,254519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519,Kagami-Ogata syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19758,254525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525,Temple syndrome due to paternal 14q32.2 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,2
6043,2543,2798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798,Pachygyria-intellectual disability-epilepsy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2542,2796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796,Pachydermoperiostosis,21401,Malformation syndrome,36547,Disorder,2
6043,19759,254528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,2
6043,19752,254478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478,Lichen planus pemphigoides,21394,Disease,36547,Disorder,2
6043,2537,2789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789,Lateral meningocele syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2536,2788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788,Osteoporosis-pseudoglioma syndrome,21394,Disease,36547,Disorder,1
6043,19753,254492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492,Frontal fibrosing alopecia,21394,Disease,36547,Disorder,1
6043,2539,2791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791,Otodental syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19754,254504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504,Inhalational botulism,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2538,2790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790,"Endosteal hyperostosis, Worth type",21401,Malformation syndrome,36547,Disorder,2
6043,19755,254509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509,Iatrogenic botulism,21450,Clinical subtype,36554,Subtype of disorder,2
6043,19748,254411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411,Annular atrophic lichen planus,21394,Disease,36547,Disorder,2
6043,2533,1306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1306,Buschke-Ollendorff syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19749,254424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424,Annular lichen planus,21394,Disease,36547,Disorder,1
6043,2532,2783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783,Autosomal dominant osteopetrosis type 1,21401,Malformation syndrome,36547,Disorder,2
6043,2535,2787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787,Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19750,254449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449,Atrophic lichen planus,21394,Disease,36547,Disorder,1
6043,2534,2786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19751,254463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463,Lichen planus pigmentosus,21394,Disease,36547,Disorder,1
6043,2529,2780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780,Osteopathia striata-cranial sclerosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2528,2779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19746,254379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379,Linear lichen planus,21394,Disease,36547,Disorder,1
6043,19747,254395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395,Actinic lichen planus,21394,Disease,36547,Disorder,1
6043,2530,667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667,Autosomal recessive malignant osteopetrosis,21401,Malformation syndrome,36547,Disorder,2
6043,2556,2815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815,Spastic paraparesis-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2559,2818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,2552,2808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808,Laryngeal abductor paralysis,21401,Malformation syndrome,36547,Disorder,2
6043,2554,2812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812,Parana hard skin syndrome,21394,Disease,36547,Disorder,2
6043,2548,2805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805,Partial pancreatic agenesis,21415,Morphological anomaly,36547,Disorder,2
6043,19765,254698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698,Epithelioid trophoblastic tumor,21394,Disease,36547,Disorder,1
6043,19764,254693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693,Partial hydatidiform mole,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2549,675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675,Annular pancreas,21415,Morphological anomaly,36547,Disorder,16
6043,2551,678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678,Papillon-Lefèvre syndrome,21394,Disease,36547,Disorder,1
6043,19766,254704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704,Genetic hyperferritinemia without iron overload,21408,Biological anomaly,36547,Disorder,1
6043,19761,254534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,2545,2802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802,X-linked sideroblastic anemia and spinocerebellar ataxia,21394,Disease,36547,Disorder,2
6043,19760,254531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531,Temple syndrome due to paternal 14q32.2 hypomethylation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,19763,254688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688,Complete hydatidiform mole,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2547,2804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804,W syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2304,2491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491,Müllerian duct anomalies-limb anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2305,2492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492,FATCO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2311,2499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499,Metachondromatosis,21401,Malformation syndrome,36547,Disorder,2
6043,2308,2496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496,Mesomelia-synostoses syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2309,2497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497,Upper limb mesomelic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2314,2502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2313,2501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501,"Metaphyseal chondrodysplasia, Spahr type",21394,Disease,36547,Disorder,2
6043,2316,2504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2323,2511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511,Microbrachycephaly-ptosis-cleft lip syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2322,2510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510,Micro syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2320,2508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508,Corpus callosum agenesis-abnormal genitalia syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2327,2516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516,Microcephaly-cardiac defect-lung malsegmentation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2326,2515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515,Microcephaly-cardiomyopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2324,2513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513,Microcephaly-albinism-digital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2331,2521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2334,2524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524,Pontocerebellar hypoplasia type 2,21401,Malformation syndrome,36547,Disorder,2
6043,2333,2523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523,Microcephaly-brain defect-spasticity-hypernatremia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2332,2522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522,Microcephaly-cervical spine fusion anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2336,2526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526,Microcephaly-lymphedema-chorioretinopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2338,2528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528,"Microcephaly-microcornea syndrome, Seemanova type",21401,Malformation syndrome,36547,Disorder,2
6043,2342,2533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533,Microcephaly-deafness-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2344,2536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536,Microcornea-glaucoma-absent frontal sinuses syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2355,2551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551,Microspherophakia-metaphyseal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2357,2554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554,Ear-patella-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2359,2556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556,Microphthalmia with linear skin defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2361,2558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558,Mikati-Najjar-Sahli syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2360,2557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557,Mietens syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2363,2561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561,Pyramidal molars-abnormal upper lip syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2362,2560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2365,2564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564,Tetramelic monodactyly,21401,Malformation syndrome,36547,Disorder,1
6043,2364,2563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563,MOMO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2366,2565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565,Mononen-Karnes-Senac syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2374,2574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574,Moynahan syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2375,575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575,Muckle-Wells syndrome,21394,Disease,36547,Disorder,2
6043,2372,2572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572,Spastic ataxia-corneal dystrophy syndrome,21394,Disease,36547,Disorder,2
6043,2373,2573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573,Moyamoya disease,21394,Disease,36547,Disorder,10
6043,2370,2570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2371,2571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571,X-linked immunoneurologic disorder,21394,Disease,36547,Disorder,2
6043,19855,261183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183,15q11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19853,261144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144,14q12 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19851,261120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120,14q11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2378,2578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2379,2579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,21394,Disease,36547,Disorder,2
6043,19849,261102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102,Distal 7q11.23 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2376,2576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576,Mulibrey nanism,21401,Malformation syndrome,36547,Disorder,3
6043,19862,261236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236,16p13.11 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19863,261243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243,16p13.11 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2390,2608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608,N syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19860,261222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222,Distal 16p11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2389,1359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359,Carney complex,21394,Disease,36547,Disorder,2
6043,19861,261229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229,14q11.2 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2387,2590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,19858,261204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204,16p11.2p12.2 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19859,261211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211,16p11.2p12.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2386,2589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589,Myoclonus-cerebellar ataxia-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19856,261190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190,15q14 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2385,2588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588,Myhre syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19857,261197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197,Proximal 16p11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19870,261295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295,20p12.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19871,261304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304,Paternal 20q13.2q13.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19868,261279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279,17q23.1q23.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19869,261290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290,Trisomy 17p,21401,Malformation syndrome,36547,Disorder,1
6043,2396,2617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617,"Microcephalic primordial dwarfism, Montreal type",21401,Malformation syndrome,36547,Disorder,2
6043,19866,261265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265,17q12 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,19867,261272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272,17q12 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,19864,261250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250,16q24.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2393,2616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616,3M syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2392,2613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613,Nail-patella-like renal disease,21394,Disease,36547,Disorder,2
6043,19865,261257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257,Distal 17p13.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19877,261344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344,Trisomy 1q,21401,Malformation syndrome,36547,Disorder,2
6043,19876,261337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337,Distal 22q11.2 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19879,261476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476,Xp21 microdeletion syndrome,21394,Disease,36547,Disorder,2
6043,19878,261349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349,2p15p16.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19873,261318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318,Trisomy 20p,21401,Malformation syndrome,36547,Disorder,1
6043,19872,261311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311,20q13.33 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2401,2623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623,Geleophysic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,19875,261330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330,Distal 22q11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,19874,261323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323,21q22.11q22.12 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19885,261524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524,Paternal uniparental disomy of chromosome X,21401,Malformation syndrome,36547,Disorder,1
6043,19884,261519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519,Maternal uniparental disomy of chromosome X,21401,Malformation syndrome,36547,Disorder,1
6043,19887,261534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534,"49,XXXYY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,19886,261529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529,Ring chromosome Y syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2408,2631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19881,261494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494,Kleefstra syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19880,261483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483,Xq27.3q28 duplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2409,2632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632,Langer mesomelic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,19882,261501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501,Atypical Norrie disease due to Xp11.3 microdeletion,21401,Malformation syndrome,36547,Disorder,1
6043,2411,2634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",21401,Malformation syndrome,36547,Disorder,1
6043,2421,2646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646,Parastremmatic dwarfism,21401,Malformation syndrome,36547,Disorder,1
6043,2420,2645,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645,Osteoglosphonic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,19894,261600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600,Alagille syndrome due to 20p12 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,1
6043,2417,2643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643,"Microcephalic primordial dwarfism, Toriello type",21401,Malformation syndrome,36547,Disorder,2
6043,2418,2636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636,Microcephalic osteodysplastic primordial dwarfism types I and III,21401,Malformation syndrome,36547,Disorder,2
6043,2429,2658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658,Lenz-Majewski hyperostotic dwarfism,21401,Malformation syndrome,36547,Disorder,2
6043,19897,261638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638,Okihiro syndrome due to 20q13 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,1
6043,19899,261652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652,Kleefstra syndrome due to a point mutation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,20095,264200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200,14q22q23 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2746,3056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3056,"X-linked intellectual disability, Brooks type",21394,Disease,36547,Disorder,2
6043,2747,3057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057,Monoamine oxidase A deficiency,21394,Disease,36547,Disorder,1
6043,2745,3055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2741,3052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052,X-linked intellectual disability-seizures-psoriasis syndrome,21394,Disease,36547,Disorder,2
6043,2739,3047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",21401,Malformation syndrome,36547,Disorder,2
6043,2737,3044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2735,3042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2734,3041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041,Intellectual disability-balding-patella luxation-acromicria syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2732,3038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20074,263665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665,NK-cell enteropathy,21394,Disease,36547,Disorder,2
6043,20072,263558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263558,Peeling skin syndrome type C,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2729,3035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035,Growth delay-hydrocephaly-lung hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20073,263662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662,Familial multiple meningioma,21394,Disease,36547,Disorder,1
6043,2728,3034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034,Delayed membranous cranial ossification,21401,Malformation syndrome,36547,Disorder,2
6043,20070,263548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548,Peeling skin syndrome type A,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20071,263553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553,Peeling skin syndrome type B,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2725,3032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032,NPHP3-related Meckel-like syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20068,263534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534,Acral peeling skin syndrome,21394,Disease,36547,Disorder,2
6043,20069,263543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543,Generalized peeling skin syndrome,21394,Disease,36547,Disorder,1
6043,20066,263516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516,Progressive myoclonic epilepsy type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20067,263524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524,Acute necrotizing encephalopathy of childhood,21394,Disease,36547,Disorder,1
6043,20064,263501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501,COG4-CDG,21394,Disease,36547,Disorder,2
6043,2720,3026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026,Radial ray hypoplasia-choanal atresia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20065,263508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508,COG1-CDG,21394,Disease,36547,Disorder,2
6043,20061,263482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482,"Spondyloepiphyseal dysplasia, Maroteaux type",21394,Disease,36547,Disorder,2
6043,2716,3021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021,RAPADILINO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20060,263479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479,Fuchs heterochromic iridocyclitis,21394,Disease,36547,Disorder,3
6043,20063,263494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494,DPM3-CDG,21394,Disease,36547,Disorder,2
6043,2718,3023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20062,263487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487,COG5-CDG,21394,Disease,36547,Disorder,2
6043,20057,263458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458,Hyperinsulinism due to INSR deficiency,21394,Disease,36547,Disorder,2
6043,20056,263455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455,Hyperinsulinism due to HNF4A deficiency,21394,Disease,36547,Disorder,1
6043,2713,1832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832,Lethal osteosclerotic bone dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2714,3018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2715,3019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019,Ramon syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20058,263463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463,CHST3-related skeletal dysplasia,21394,Disease,36547,Disorder,2
6043,20053,263432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432,Nevus of Ito,21394,Disease,36547,Disorder,2
6043,20052,263425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425,Nevus of Ota,21394,Disease,36547,Disorder,1
6043,2710,3015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015,Radio-renal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20055,263440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440,Neuroacanthocytosis,21436,Clinical group,36540,Group of disorders,1
6043,20054,263435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435,Congenital smooth muscle hamartoma,21394,Disease,36547,Disorder,2
6043,2711,3016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016,Absent radius-anogenital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20049,263410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,21394,Disease,36547,Disorder,2
6043,2705,3010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010,Qazi-Markouizos syndrome,21394,Disease,36547,Disorder,2
6043,2706,3011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,2707,769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769,Rabson-Mendenhall syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20050,263413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413,Angiosarcoma,21394,Disease,36547,Disorder,3
6043,2701,3003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003,Pyknoachondrogenesis,21401,Malformation syndrome,36547,Disorder,2
6043,20044,263335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335,Moderately-differentiated thymic neuroendocrine carcinoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,20045,263339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339,Poorly differentiated thymic neuroendocrine carcinoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2703,3005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005,Pyle disease,21394,Disease,36547,Disorder,2
6043,20046,263347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347,MRCS syndrome,21394,Disease,36547,Disorder,2
6043,20047,263352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352,Postcardiotomy right ventricular failure,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,2702,3004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20040,263310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310,Thymoma type A,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,2697,2997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997,Ptosis-vocal cord paralysis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20041,263317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317,Thymoma type B,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,20042,263324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324,Thymoma type AB,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,2699,2999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999,Ptosis-strabismus-ectopic pupils syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20043,263331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331,Well-differentiated thymic neuroendocrine carcinoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,2692,2990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990,Autosomal recessive multiple pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20039,263297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,21394,Disease,36547,Disorder,2
6043,2689,2987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987,Antecubital pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2688,2985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985,Pseudoprogeria syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2690,2988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988,Pterygium colli-intellectual disability-digital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2808,3138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138,Ulnar-mammary syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2814,3145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145,Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,2812,3143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143,Autoimmune polyendocrinopathy type 2,21394,Disease,36547,Disorder,1
6043,2813,3144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144,Schneckenbecken dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,2803,3132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132,Say-Barber-Miller syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2801,3130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130,Satoyoshi syndrome,21394,Disease,36547,Disorder,2
6043,2807,798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798,Schinzel-Giedion syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,2804,3133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3133,Say-Field-Coldwell syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20021,262941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941,Partial duplication of the long arm of chromosome 14,36561,Category,36540,Group of disorders,2
6043,2805,3134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134,SCARF syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2795,3121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121,Ruvalcaba syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2785,2909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909,Rothmund-Thomson syndrome,21394,Disease,36547,Disorder,2
6043,2784,3110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110,Rombo syndrome,21394,Disease,36547,Disorder,1
6043,2776,3101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101,Richieri Costa-da Silva syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2777,3102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102,Richieri Costa-Pereira syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2778,3104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104,Robin sequence-oligodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2781,3107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107,Autosomal dominant Robinow syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2783,3109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109,Mayer-Rokitansky-Küster-Hauser syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2769,3086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086,Autosomal dominant vitreoretinochoroidopathy,21394,Disease,36547,Disorder,2
6043,2771,3088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088,Revesz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2773,3097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097,Meacham syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2774,3098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098,"Rhizomelic syndrome, Urbach type",21401,Malformation syndrome,36547,Disorder,2
6043,2765,3078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078,"Severe X-linked intellectual disability, Gustavson type",21401,Malformation syndrome,36547,Disorder,2
6043,2764,3077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2767,3080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080,"Intellectual disability, Wolff type",21401,Malformation syndrome,36547,Disorder,2
6043,2766,3079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079,"Intellectual disability, Buenos-Aires type",21401,Malformation syndrome,36547,Disorder,2
6043,2752,3063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063,"X-linked intellectual disability, Snyder type",21394,Disease,36547,Disorder,2
6043,2757,3068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068,Intellectual disability-myopathy-short stature-endocrine defect syndrome,21394,Disease,36547,Disorder,2
6043,20214,268843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843,"Malformation of the neurenteric canal, spinal cord and column",36561,Category,36540,Group of disorders,1
6043,2614,2886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886,TARP syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20215,268861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861,Primary tethered cord syndrome,21415,Morphological anomaly,36547,Disorder,1
6043,2613,2885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885,Piebald trait-neurologic defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20212,268838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268838,Leptomyelolipoma,21415,Morphological anomaly,36547,Disorder,1
6043,2612,2884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884,Piebaldism,21394,Disease,36547,Disorder,1
6043,2611,2881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881,Cutaneous photosensitivity-lethal colitis syndrome,21394,Disease,36547,Disorder,2
6043,20210,268832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268832,Lipoma associated with neurospinal dysraphism,21436,Clinical group,36540,Group of disorders,1
6043,2610,2879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879,"Phocomelia, Schinzel type",21401,Malformation syndrome,36547,Disorder,1
6043,20211,268835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268835,Lipomyelomeningocele,21415,Morphological anomaly,36547,Disorder,2
6043,2609,2878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878,Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20208,268826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826,Parietal encephalocele,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20209,268829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829,Basal encephalocele,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20223,268920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268920,Isolated megalencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20220,268882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882,Arnold-Chiari malformation type I,21415,Morphological anomaly,36547,Disorder,1
6043,2620,2892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892,Pilodental dysplasia-refractive errors syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2619,2891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891,Pili torti-developmental delay-neurological abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2618,2889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889,Pili torti,21394,Disease,36547,Disorder,1
6043,2617,2890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890,Pili torti-onychodysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20216,268865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865,Neurenteric cyst,21415,Morphological anomaly,36547,Disorder,1
6043,2616,2888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888,Pierre Robin syndrome-faciodigital anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20217,268868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868,Isolated amyelia,21415,Morphological anomaly,36547,Disorder,1
6043,20199,268770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268770,Upper thoracic spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2598,2865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865,Short stature-webbed neck-heart disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2599,2866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20198,268766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268766,Cervicothoracic spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2596,2863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863,Short stature-wormian bones-dextrocardia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20197,268762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268762,Cervical spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20196,268758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268758,Lumbosacral spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20195,268752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268752,Thoracolumbosacral spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20194,268748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268748,Total spina bifida cystica,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20193,268744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744,Spina bifida cystica,21436,Clinical group,36540,Group of disorders,2
6043,20192,268740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268740,Upper thoracic spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20207,268823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823,Occipital encephalocele,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2607,2876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876,PHAVER syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20206,268820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820,Cranial meningocele,21415,Morphological anomaly,36547,Disorder,1
6043,20205,268817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817,Cephalocele,21436,Clinical group,36540,Group of disorders,1
6043,2605,2874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874,Phakomatosis pigmentokeratotica,21401,Malformation syndrome,36547,Disorder,2
6043,20204,268813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813,Myelocystocele,21415,Morphological anomaly,36547,Disorder,1
6043,20203,268810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810,Posterior meningocele,21415,Morphological anomaly,36547,Disorder,1
6043,2602,2871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871,Pfeiffer-Palm-Teller syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2603,2872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872,"Cardiocranial syndrome, Pfeiffer type",21401,Malformation syndrome,36547,Disorder,2
6043,2600,2867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867,"Short stature, Brussels type",21401,Malformation syndrome,36547,Disorder,2
6043,2601,2868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868,Short stature-valvular heart disease-characteristic facies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2581,2846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846,Congenital pericardium anomaly,36561,Category,36540,Group of disorders,1
6043,2580,2842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842,Penoscrotal transposition,21415,Morphological anomaly,36547,Disorder,1
6043,2583,2848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,21394,Disease,36547,Disorder,2
6043,2582,2847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847,Pericardial and diaphragmatic defect,21401,Malformation syndrome,36547,Disorder,2
6043,20183,268357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357,Neural tube closure defect,36561,Category,36540,Group of disorders,1
6043,2577,2838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838,Renal caliceal diverticuli-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20176,268322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322,Hereditary thrombocytopenia with normal platelets,21394,Disease,36547,Disorder,1
6043,2579,2840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2578,2839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839,Pelvis-shoulder dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,20188,268384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268384,Thoracolumbosacral spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2589,2855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855,Perrault syndrome,21394,Disease,36547,Disorder,2
6043,2588,2854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854,Fuhrmann syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20189,268388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268388,Lumbosacral spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20190,268392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268392,Cervical spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2590,708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708,Peters anomaly,21415,Morphological anomaly,36547,Disorder,2
6043,20191,268397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268397,Cervicothoracic spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20184,268363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363,Open iniencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20185,268366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366,Closed iniencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2584,2850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850,Alopecia-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,20186,268369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369,Spina bifida aperta,21415,Morphological anomaly,36547,Disorder,6
6043,20187,268377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268377,Total spina bifida aperta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20165,268114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114,RAS-associated autoimmune leukoproliferative disease,21394,Disease,36547,Disorder,2
6043,2564,2825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825,PARC syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2565,2826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826,Spastic paraplegia-precocious puberty syndrome,21394,Disease,36547,Disorder,2
6043,20167,268139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139,Intraocular medulloepithelioma,21394,Disease,36547,Disorder,1
6043,20166,268129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129,Spheroid body myopathy,21394,Disease,36547,Disorder,1
6043,2560,2819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819,Spastic paraplegia-facial-cutaneous lesions syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2561,2820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820,Spastic paraplegia-nephritis-deafness syndrome,21422,Clinical syndrome,36547,Disorder,2
6043,2562,2821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,21394,Disease,36547,Disorder,2
6043,2563,2822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822,Autosomal recessive spastic paraplegia type 11,21394,Disease,36547,Disorder,1
6043,2572,2835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20173,268261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2573,2836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836,PEHO syndrome,21394,Disease,36547,Disorder,1
6043,20172,268249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249,Mycophenolate mofetil embryopathy,21401,Malformation syndrome,36547,Disorder,2
6043,20175,268316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316,Complication in hemodialysis,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,2
6043,20169,268162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162,Intermediate maple syrup urine disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2569,2832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832,Short tarsus-absence of lower eyelashes syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20168,268145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145,Classic maple syrup urine disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20171,268184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184,Thiamine-responsive maple syrup urine disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2570,2833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833,Stiff skin syndrome,21394,Disease,36547,Disorder,2
6043,2571,2834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834,Wrinkly skin syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20170,268173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173,Intermittent maple syrup urine disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,2675,2969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969,Proteus-like syndrome,21394,Disease,36547,Disorder,1
6043,2673,2962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962,De Barsy syndrome,21394,Disease,36547,Disorder,2
6043,2678,2972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2676,750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750,Pseudoachondroplasia,21394,Disease,36547,Disorder,1
6043,2682,2976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976,"Pseudoleprechaunism syndrome, Patterson type",21401,Malformation syndrome,36547,Disorder,2
6043,2681,2975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975,"46,XX disorder of sex development-skeletal anomalies syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,2686,2980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980,Acrootoocular syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2684,2978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978,Chronic intestinal pseudoobstruction,21422,Clinical syndrome,36547,Disorder,1
6043,2659,2946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946,Brachydactyly-long thumb syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2656,1848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848,"Renal agenesis, bilateral",21450,Clinical subtype,36554,Subtype of disorder,18
6043,2662,2950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2950,Triphalangeal thumb-polysyndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2663,2951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951,Absent thumb-short stature-immunodeficiency syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2660,2947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947,Triphalangeal thumbs-brachyectrodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20132,264978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978,Drug or radiation exposure-related interstitial lung disease,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,2667,2956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956,Acrodysplasia scoliosis,21401,Malformation syndrome,36547,Disorder,2
6043,2664,2952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",21401,Malformation syndrome,36547,Disorder,2
6043,2670,740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740,Hutchinson-Gilford progeria syndrome,21394,Disease,36547,Disorder,2
6043,2671,2959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959,Progeria-short stature-pigmented nevi syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2668,2957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957,Guttmacher syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2669,2958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2641,2924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924,Isolated polycystic liver disease,21401,Malformation syndrome,36547,Disorder,1
6043,2643,2926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926,Digital extensor muscle aplasia-polyneuropathy,21401,Malformation syndrome,36547,Disorder,2
6043,2645,2928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2646,2930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930,Cronkhite-Canada syndrome,21394,Disease,36547,Disorder,2
6043,2649,2935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935,Crossed polysyndactyly,21401,Malformation syndrome,36547,Disorder,2
6043,2648,2934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934,Polysyndactyly-cardiac malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2655,2941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2654,2940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940,Porencephaly,21394,Disease,36547,Disorder,3
6043,2624,2896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896,Pitt-Hopkins syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2626,2900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900,Leri pleonosteosis,21401,Malformation syndrome,36547,Disorder,1
6043,2627,2905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905,POEMS syndrome,21394,Disease,36547,Disorder,2
6043,2629,2907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907,Hereditary acrokeratotic poikiloderma,21394,Disease,36547,Disorder,2
6043,2630,2911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911,Poland syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,20103,264580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,21394,Disease,36547,Disorder,2
6043,2634,2916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916,Postaxial polydactyly-dental and vertebral anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2635,2917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917,Polydactyly-myopia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2637,2919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919,Orofaciodigital syndrome type 5,21401,Malformation syndrome,36547,Disorder,2
6043,20108,264675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675,Hereditary pulmonary alveolar proteinosis,21394,Disease,36547,Disorder,1
6043,2638,2920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920,Oliver syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20111,264691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691,Isolated pulmonary capillaritis,21394,Disease,36547,Disorder,1
6043,2639,2921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20110,264688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688,Congenital chylothorax,21394,Disease,36547,Disorder,2
6043,2989,3374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374,Triopia,21415,Morphological anomaly,36547,Disorder,1
6043,20332,275803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803,Pulmonary arterial hypertension associated with congenital heart disease,21436,Clinical group,36540,Group of disorders,9
6043,20333,275808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808,Pulmonary arterial hypertension associated with HIV infection,21436,Clinical group,36540,Group of disorders,1
6043,20334,275813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813,Pulmonary arterial hypertension associated with portal hypertension,21436,Clinical group,36540,Group of disorders,1
6043,2990,3377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377,Trismus-pseudocamptodactyly syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20335,275823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823,Pulmonary arterial hypertension associated with schistosomiasis,21436,Clinical group,36540,Group of disorders,1
6043,2985,3368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368,Trigonocephaly-bifid nose-acral anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20328,275777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777,Heritable pulmonary arterial hypertension,21443,Etiological subtype,36554,Subtype of disorder,3
6043,20329,275786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786,Drug- or toxin-induced pulmonary arterial hypertension,21436,Clinical group,36540,Group of disorders,1
6043,20330,275791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791,Pulmonary arterial hypertension associated with another disease,36561,Category,36540,Group of disorders,1
6043,2986,3369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369,Trigonocephaly-short stature-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20331,275798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798,Pulmonary arterial hypertension associated with connective tissue disease,21436,Clinical group,36540,Group of disorders,8
6043,2981,3363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20326,275761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761,Lysosomal acid lipase deficiency,21394,Disease,36547,Disorder,2
6043,2983,3366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366,Isolated trigonocephaly,21415,Morphological anomaly,36547,Disorder,1
6043,2982,3365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365,Trigonocephaly-broad thumbs syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20327,275766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766,Idiopathic pulmonary arterial hypertension,21443,Etiological subtype,36554,Subtype of disorder,16
6043,2979,3361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361,Trichodysplasia-xeroderma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3004,3408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408,Upington disease,21401,Malformation syndrome,36547,Disorder,2
6043,3005,3409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409,Urban-Rogers-Meyer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20348,276145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145,Malignant epithelial tumor of salivary glands,21394,Disease,36547,Disorder,24
6043,20351,276161,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161,Multiple endocrine neoplasia,21436,Clinical group,36540,Group of disorders,2
6043,3007,3412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412,VACTERL with hydrocephalus,21401,Malformation syndrome,36547,Disorder,2
6043,20350,276152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152,Multiple endocrine neoplasia type 4,21394,Disease,36547,Disorder,1
6043,3001,3403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403,Uhl anomaly,21415,Morphological anomaly,36547,Disorder,3
6043,3002,3404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404,Ulbright-Hodes syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20346,276066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066,Bile acid CoA ligase deficiency and defective amidation,21394,Disease,36547,Disorder,1
6043,20341,275872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872,Frontotemporal dementia with motor neuron disease,21394,Disease,36547,Disorder,1
6043,2996,3383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383,Humerus trochlea aplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2997,3384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384,Truncus arteriosus,21415,Morphological anomaly,36547,Disorder,16
6043,20340,275864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864,Behavioral variant of frontotemporal dementia,21394,Disease,36547,Disorder,1
6043,20343,275944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944,Hemolytic disease of the newborn with Kell alloimmunization,21394,Disease,36547,Disorder,2
6043,2998,3387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387,Isolated anterior cervical hypertrichosis,21394,Disease,36547,Disorder,2
6043,2999,3388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388,Neural tube defect,36561,Category,36540,Group of disorders,23
6043,2992,1723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723,Mosaic trisomy 2,21401,Malformation syndrome,36547,Disorder,2
6043,20336,275828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828,Pulmonary arterial hypertension associated with chronic hemolytic anemia,21436,Clinical group,36540,Group of disorders,1
6043,2993,1724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724,Mosaic trisomy 20,21401,Malformation syndrome,36547,Disorder,1
6043,2994,1747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747,Mosaic trisomy 7,21401,Malformation syndrome,36547,Disorder,2
6043,2956,3332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3332,Hypoplastic tibiae-postaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2954,3329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329,Tibial aplasia-ectrodactyly syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2953,3328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328,Absent tibia-polydactyly-arachnoid cyst syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2952,3327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327,Thyrocerebrorenal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2951,3326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326,Thymic-renal-anal-lung dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2949,3322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322,Hoyeraal-Hreidarsson syndrome,21394,Disease,36547,Disorder,2
6043,2947,3317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317,Thoracolaryngopelvic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,2946,3316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316,Thomas syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2974,3355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355,Trichoodontoonychial dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,20319,275555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555,Preeclampsia,21394,Disease,36547,Disorder,1
6043,20318,275543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543,L1 syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2972,3353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353,Trichodermodysplasia-dental alterations syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20317,275534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275534,Myostatin-related muscle hypertrophy,21394,Disease,36547,Disorder,1
6043,20316,275523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523,Dianzani autoimmune lymphoproliferative disease,21394,Disease,36547,Disorder,2
6043,2970,3351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351,Trichodental syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20315,275517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517,Autoimmune lymphoproliferative syndrome with recurrent viral infections,21394,Disease,36547,Disorder,2
6043,2971,3352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352,Tricho-dento-osseous syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2969,3350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350,Tremor-nystagmus-duodenal ulcer syndrome,21394,Disease,36547,Disorder,2
6043,2966,3344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344,Weismann-Netter syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2967,3347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347,Mounier-Kühn syndrome,21422,Clinical syndrome,36547,Disorder,2
6043,2964,3341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2965,3342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342,Arterial tortuosity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2962,3339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339,Toriello-Lacassie-Droste syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2961,3338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338,Toriello-Carey syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3049,3469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469,XK aprosencephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3051,3472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472,Yunis-Varon syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3050,3471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471,Young syndrome,21394,Disease,36547,Disorder,1
6043,3053,3319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319,Congenital amegakaryocytic thrombocytopenia,21394,Disease,36547,Disorder,3
6043,3052,3473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473,Zimmermann-Laband syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3041,3459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459,Wilson-Turner syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3045,3464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464,Woodhouse-Sakati syndrome,21394,Disease,36547,Disorder,2
6043,3047,3466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466,WT limb-blood syndrome,21394,Disease,36547,Disorder,2
6043,3046,3465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465,Worster-Drought syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,3064,2749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749,Oromandibular-limb hypogenesis syndrome,21436,Clinical group,36540,Group of disorders,1
6043,3066,2995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995,Baraitser-Winter cerebrofrontofacial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3069,3200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200,Arthrogryposis-ectodermal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3071,1570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570,Symbrachydactyly of hands and feet,21401,Malformation syndrome,36547,Disorder,2
6043,3057,3243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243,Sweet syndrome,21394,Disease,36547,Disorder,1
6043,3060,1827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827,Acromelic frontonasal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,3063,2076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076,X-linked intellectual disability-epilepsy syndrome,21436,Clinical group,36540,Group of disorders,1
6043,20234,268980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980,Isolated focal cortical dysplasia type Ib,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,20235,268987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987,Isolated focal cortical dysplasia type Ic,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,3017,3424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424,Velo-facial-skeletal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20233,268973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973,Isolated focal cortical dysplasia type Ia,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,20238,269008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008,Isolated focal cortical dysplasia type IIb,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,3023,3433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20236,268994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994,Isolated focal cortical dysplasia type II,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3020,3429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429,Verloove Vanhorick-Brubakk syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20237,269001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001,Isolated focal cortical dysplasia type IIa,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,3011,2460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460,Van den Ende-Gupta syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20226,268940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940,Bilateral polymicrogyria,21415,Morphological anomaly,36547,Disorder,1
6043,20227,268943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943,Unilateral polymicrogyria,21415,Morphological anomaly,36547,Disorder,1
6043,3010,3416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416,Hyperostosis corticalis generalisata,21401,Malformation syndrome,36547,Disorder,2
6043,20224,268926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926,Midline cerebral malformation,36561,Category,36540,Group of disorders,1
6043,20225,268936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936,Isolated arhinencephaly,21415,Morphological anomaly,36547,Disorder,1
6043,20231,268961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961,Isolated focal cortical dysplasia type I,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20228,268947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947,Unilateral focal polymicrogyria,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3012,3417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417,Van den Bosch syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20229,268950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950,Cerebral cortical dysplasia,21436,Clinical group,36540,Group of disorders,1
6043,20251,269229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229,Pontine tegmental cap dysplasia,21415,Morphological anomaly,36547,Disorder,2
6043,3035,3453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453,Autoimmune polyendocrinopathy type 1,21394,Disease,36547,Disorder,3
6043,20250,269224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224,Global cerebellar malformation,36561,Category,36540,Group of disorders,1
6043,3032,3448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448,Weaver-Williams syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20249,269221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221,Isolated bilateral hemispheric cerebellar hypoplasia,21415,Morphological anomaly,36547,Disorder,1
6043,3033,3449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449,Weill-Marchesani syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20248,269218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218,Isolated unilateral hemispheric cerebellar hypoplasia,21415,Morphological anomaly,36547,Disorder,1
6043,3038,3456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456,Wildervanck syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20253,269510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510,Congenital non-communicating hydrocephalus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3036,3454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454,Intellectual disability-developmental delay-contractures syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3037,3455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455,Wiedemann-Rautenstrauch syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20252,269505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505,Congenital communicating hydrocephalus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20243,269203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203,Isolated cerebellar vermis agenesis,21415,Morphological anomaly,36547,Disorder,1
6043,20241,269197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197,Glioependymal/ependymal cyst,21415,Morphological anomaly,36547,Disorder,1
6043,3024,3434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434,MMEP syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20247,269215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215,Isolated Dandy-Walker malformation without hydrocephalus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20246,269212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212,Isolated Dandy-Walker malformation with hydrocephalus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20245,269209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209,Isolated partial cerebellar vermis agenesis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20244,269206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206,Isolated total cerebellar vermis agenesis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2852,1856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856,Spondyloperipheral dysplasia-short ulna syndrome,21394,Disease,36547,Disorder,2
6043,20452,280302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302,Autoimmune pancreatitis type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20455,280333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333,Alpha-dystroglycan-related  limb-girdle muscular dystrophy R16,21394,Disease,36547,Disorder,2
6043,20454,280325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325,Distal monosomy 12p,21401,Malformation syndrome,36547,Disorder,2
6043,20449,280293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20448,280288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2860,3194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194,Corneodermatoosseous syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20460,280365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365,Autosomal semi-dominant severe lipodystrophic laminopathy,21394,Disease,36547,Disorder,2
6043,20463,280379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379,Erythropoietic uroporphyria associated with myeloid malignancy,21394,Disease,36547,Disorder,1
6043,2862,3197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197,Hereditary hyperekplexia,21394,Disease,36547,Disorder,2
6043,2863,3199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199,Stimmler syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2856,3184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184,Steatocystoma multiplex-natal teeth syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2857,3186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186,Holoprosencephaly-radial heart renal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2858,3191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191,Subaortic stenosis-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2859,3193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193,Supravalvular aortic stenosis,21415,Morphological anomaly,36547,Disorder,2
6043,20458,280356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356,PLIN1-related familial partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,2869,3214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214,"Deaf blind hypopigmentation syndrome, Yemenite type",21401,Malformation syndrome,36547,Disorder,2
6043,20469,280403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403,Familial omphalocele syndrome with facial dysmorphism,21401,Malformation syndrome,36547,Disorder,2
6043,20470,280406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,21394,Disease,36547,Disorder,2
6043,2865,3210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210,Summitt syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2864,3201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20465,280384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,21394,Disease,36547,Disorder,2
6043,20467,280397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397,Familial Alzheimer-like prion disease,21394,Disease,36547,Disorder,2
6043,20476,280576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576,Nestor-Guillermo progeria syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2877,3220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220,Deafness-enamel hypoplasia-nail defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2876,3219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219,Fountain syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2879,3222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222,Phosphoribosylpyrophosphate synthetase superactivity,21394,Disease,36547,Disorder,2
6043,20478,280586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586,"Chondrodysplasia with joint dislocations, gPAPP type",21401,Malformation syndrome,36547,Disorder,2
6043,2873,3217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217,Deafness-small bowel diverticulosis-neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,20472,280553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553,Fatal infantile hypertonic myofibrillar myopathy,21394,Disease,36547,Disorder,2
6043,20473,280558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558,Warsaw breakage syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2872,3216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216,Conductive deafness-malformed external ear syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2875,3218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218,Deafness-epiphyseal dysplasia-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2823,647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647,Nijmegen breakage syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20422,280062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062,Calciphylaxis,21394,Disease,36547,Disorder,1
6043,20421,279947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947,Postorgasmic illness syndrome,21422,Clinical syndrome,36547,Disorder,2
6043,20420,279943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943,Hereditary neutrophilia,21394,Disease,36547,Disorder,2
6043,20419,279934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",21394,Disease,36547,Disorder,2
6043,2819,3152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152,Sclerosteosis,21401,Malformation syndrome,36547,Disorder,2
6043,20431,280142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142,Severe combined immunodeficiency due to LCK deficiency,21394,Disease,36547,Disorder,2
6043,2830,3164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164,"Omphalocele syndrome, Shprintzen-Goldberg type",21401,Malformation syndrome,36547,Disorder,2
6043,2831,3168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168,Sillence syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20430,280133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133,Complement component 3 deficiency,21394,Disease,36547,Disorder,2
6043,2829,3163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163,SHORT syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2826,1479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479,Atrial septal defect-atrioventricular conduction defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2824,3156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156,Senior-Loken syndrome,21394,Disease,36547,Disorder,2
6043,20425,280071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071,ALG11-CDG,21394,Disease,36547,Disorder,2
6043,2825,3157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157,Septo-optic dysplasia spectrum,21401,Malformation syndrome,36547,Disorder,2
6043,2839,3180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180,Spondylocamptodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20438,280210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210,"Pelizaeus-Merzbacher disease, connatal form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,20439,280219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219,"Pelizaeus-Merzbacher disease, classic form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,20436,280200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200,Microform holoprosencephaly,21401,Malformation syndrome,36547,Disorder,1
6043,2836,3177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177,Spinocerebellar degeneration-corneal dystrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20437,280205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205,Laryngotracheoesophageal cleft type 0,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2835,3175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175,X-linked spasticity-intellectual disability-epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,20435,280195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195,Septopreoptic holoprosencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2833,3172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172,Eyebrow duplication-syndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20433,280183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183,Methylmalonic aciduria due to transcobalamin receptor defect,21408,Biological anomaly,36547,Disorder,2
6043,20447,280282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20445,280270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270,Pelizaeus-Merzbacher-like disease,21394,Disease,36547,Disorder,1
6043,20442,280234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234,Null syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2842,1855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855,Spondyloenchondrodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,20440,280224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224,"Pelizaeus-Merzbacher disease, transitional form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,2841,1797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797,Autosomal dominant spondylocostal dysostosis,21401,Malformation syndrome,36547,Disorder,1
6043,20441,280229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229,Pelizaeus-Merzbacher disease in female carriers,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20385,276580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,21394,Disease,36547,Disorder,1
6043,2913,3258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258,Cenani-Lenz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20384,276575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,21394,Disease,36547,Disorder,1
6043,2914,3262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262,Dobrow syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20387,276598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,21394,Disease,36547,Disorder,1
6043,20389,276608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608,Non-insulinoma pancreatogenous hypoglycemia syndrome,21394,Disease,36547,Disorder,1
6043,2916,3265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265,Humero-radial synostosis,21415,Morphological anomaly,36547,Disorder,2
6043,20388,276603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,21394,Disease,36547,Disorder,1
6043,2917,3266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266,Humero-radio-ulnar synostosis,21415,Morphological anomaly,36547,Disorder,2
6043,20390,276621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621,Sporadic pheochromocytoma/secreting paraganglioma,21394,Disease,36547,Disorder,1
6043,2919,3268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20393,276630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,21401,Malformation syndrome,36547,Disorder,1
6043,2920,3270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2923,3275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275,Spondylocarpotarsal synostosis,21401,Malformation syndrome,36547,Disorder,2
6043,2927,425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425,Apolipoprotein A-I deficiency,21394,Disease,36547,Disorder,3
6043,2931,3291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291,Teebi-Shaltout syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2933,3293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2932,3292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292,Tel Hashomer camptodactyly syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20407,279882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882,Spasmus nutans,21422,Clinical syndrome,36547,Disorder,1
6043,2934,3294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294,Extensor tendons of finger anomalies,21401,Malformation syndrome,36547,Disorder,2
6043,20408,279888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888,Acute endophthalmitis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20409,279891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891,Chronic endophthalmitis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20410,279894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894,Toxic maculopathy due to antimalarial drugs,21394,Disease,36547,Disorder,1
6043,2939,3301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301,Tetraamelia-multiple malformations syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20411,279897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897,Primary oculocerebral lymphoma,21394,Disease,36547,Disorder,1
6043,20412,279904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904,Primary intraocular lymphoma,21394,Disease,36547,Disorder,1
6043,2940,3304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304,Fallot complex-intellectual disability-growth delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2943,3312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312,Thalidomide embryopathy,21401,Malformation syndrome,36547,Disorder,1
6043,20414,279914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914,Intermediate uveitis,21394,Disease,36547,Disorder,1
6043,20355,276198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198,Spinocerebellar ataxia type 36,21394,Disease,36547,Disorder,2
6043,2882,3225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20354,276193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193,Spinocerebellar ataxia type 35,21394,Disease,36547,Disorder,2
6043,2883,3226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226,Deafness-lymphedema-leukemia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20353,276183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183,Spinocerebellar ataxia type 32,21394,Disease,36547,Disorder,2
6043,2881,3224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20352,276174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174,Idiopathic recurrent stupor,21394,Disease,36547,Disorder,1
6043,20359,276238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238,Machado-Joseph disease type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20358,276234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234,Non-syndromic male infertility due to sperm motility disorder,21394,Disease,36547,Disorder,1
6043,2890,3230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230,Deafness-oligodontia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2891,3231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231,Deafness-onychodystrophy syndrome,21436,Clinical group,36540,Group of disorders,2
6043,20361,276244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244,Machado-Joseph disease type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20360,276241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241,Machado-Joseph disease type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,2894,3235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235,Progressive deafness with stapes fixation,21401,Malformation syndrome,36547,Disorder,1
6043,2895,3236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236,Conductive deafness-ptosis-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2892,3232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232,Deafness-ear malformation-facial palsy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2893,3233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233,Cochleosaccular degeneration-cataract syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2899,3241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241,Deafness-craniofacial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20370,276280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280,Hemihyperplasia-multiple lipomatosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20371,276399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399,Familial multinodular goiter,21394,Disease,36547,Disorder,1
6043,2898,3239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239,Deafness-vitiligo-achalasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2897,3238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238,Cardiospondylocarpofacial syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2896,3237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237,Multiple synostoses syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2903,3246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246,Symphalangism with multiple anomalies of hands and feet,21401,Malformation syndrome,36547,Disorder,2
6043,20375,276413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413,10q22.3q23.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,2900,3242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242,Renpenning syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20373,276405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405,Hyperbiliverdinemia,21394,Disease,36547,Disorder,2
6043,2907,3250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250,Proximal symphalangism,21401,Malformation syndrome,36547,Disorder,1
6043,2905,3248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248,Distal symphalangism,21415,Morphological anomaly,36547,Disorder,2
6043,20376,276422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422,10q22.3q23.3 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20377,276429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429,Hypnic headache,21394,Disease,36547,Disorder,1
6043,2910,3255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255,Filippi syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20383,276556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556,Hyperinsulinism due to UCP2 deficiency,21394,Disease,36547,Disorder,2
6043,20380,276432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432,Ogden syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,2908,3253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253,Cleft lip/palate-ectodermal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20381,276435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435,Lower motor neuron syndrome with late-adult onset,21394,Disease,36547,Disorder,2
6043,3280,911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911,Combined immunodeficiency due to ZAP70 deficiency,21394,Disease,36547,Disorder,1
6043,3282,3325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325,Heparin-induced thrombocytopenia,21394,Disease,36547,Disorder,1
6043,3294,746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746,Mitochondrial trifunctional protein deficiency,21394,Disease,36547,Disorder,3
6043,3295,943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943,Malonic aciduria,21394,Disease,36547,Disorder,2
6043,3290,621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621,Hereditary methemoglobinemia,21394,Disease,36547,Disorder,1
6043,3271,2089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,21394,Disease,36547,Disorder,2
6043,3264,412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412,Dysbetalipoproteinemia,21394,Disease,36547,Disorder,2
6043,3267,743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743,Severe hereditary thrombophilia due to congenital protein S deficiency,21394,Disease,36547,Disorder,2
6043,3266,424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424,Familial hyperthyroidism due to mutations in TSH receptor,21394,Disease,36547,Disorder,2
6043,3277,325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325,Congenital factor II deficiency,21394,Disease,36547,Disorder,1
6043,3276,343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343,Hyperimmunoglobulinemia D with periodic fever,21394,Disease,36547,Disorder,2
6043,3279,572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572,Immunodeficiency by defective expression of MHC class II,21394,Disease,36547,Disorder,2
6043,3275,1930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930,Herpes simplex virus encephalitis,21394,Disease,36547,Disorder,4
6043,3316,158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158,Systemic primary carnitine deficiency,21394,Disease,36547,Disorder,6
6043,3313,2056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056,Essential fructosuria,21394,Disease,36547,Disorder,1
6043,18495,206436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436,Infantile Krabbe disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3327,820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820,Sneddon syndrome,21394,Disease,36547,Disorder,2
6043,18494,206428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,21436,Clinical group,36540,Group of disorders,1
6043,3321,1945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945,Rolandic epilepsy,21394,Disease,36547,Disorder,2
6043,3298,832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832,Succinyl-CoA:3-ketoacid CoA transferase deficiency,21394,Disease,36547,Disorder,2
6043,3297,6,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6,3-methylcrotonyl-CoA carboxylase deficiency,21394,Disease,36547,Disorder,6
6043,3296,20,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20,3-hydroxy-3-methylglutaric aciduria,21394,Disease,36547,Disorder,4
6043,3304,712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712,Hemolytic anemia due to glucophosphate isomerase deficiency,21394,Disease,36547,Disorder,2
6043,3219,2831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831,"Rhizomelic dysplasia, Patterson-Lowry type",21401,Malformation syndrome,36547,Disorder,2
6043,3221,1129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18519,206546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,21394,Disease,36547,Disorder,1
6043,3222,1383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383,Cataract-deafness-hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18518,206538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538,Malignant non-dysgerminomatous germ cell tumor of ovary,21394,Disease,36547,Disorder,1
6043,18521,206554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554,Fukutin-related  limb-girdle muscular dystrophy R13,21394,Disease,36547,Disorder,2
6043,3225,1524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524,Craniomicromelic syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,18520,206549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549,Anoctamin-5-related  limb-girdle muscular dystrophy R12,21394,Disease,36547,Disorder,1
6043,3226,1123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123,Caudal appendage-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18523,206564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564,POMGNT1-related  limb-girdle muscular dystrophy R15,21394,Disease,36547,Disorder,2
6043,18522,206559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559,POMT2-related  limb-girdle muscular dystrophy R14,21394,Disease,36547,Disorder,2
6043,18525,206572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572,Overlap myositis,21394,Disease,36547,Disorder,1
6043,18524,206569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569,Immune-mediated necrotizing myopathy,21394,Disease,36547,Disorder,2
6043,18527,206580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580,Autosomal recessive lower motor neuron disease with childhood onset,21394,Disease,36547,Disorder,2
6043,3200,3439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439,Von Voss-Cherstvoy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3202,1217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,21394,Disease,36547,Disorder,2
6043,3207,2680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680,Hypomyelination neuropathy-arthrogryposis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3206,1681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681,Diprosopus,21415,Morphological anomaly,36547,Disorder,3
6043,3214,1655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3250,633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633,Laron syndrome,21394,Disease,36547,Disorder,1
6043,3249,478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478,Kallmann syndrome,21450,Clinical subtype,36554,Subtype of disorder,4
6043,3252,822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822,Hereditary spherocytosis,21394,Disease,36547,Disorder,3
6043,3253,910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910,Xeroderma pigmentosum,21394,Disease,36547,Disorder,9
6043,3256,777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777,X-linked non-syndromic intellectual disability,21443,Etiological subtype,36554,Subtype of disorder,1
6043,3257,766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766,Hemolytic anemia due to red cell pyruvate kinase deficiency,21394,Disease,36547,Disorder,3
6043,3260,28,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28,Vitamin B12-responsive methylmalonic acidemia,21394,Disease,36547,Disorder,2
6043,18557,206973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973,Congenital myotonia,21436,Clinical group,36540,Group of disorders,1
6043,18530,206594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594,Subacute inflammatory demyelinating polyneuropathy,21394,Disease,36547,Disorder,1
6043,18531,206599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599,Isolated asymptomatic elevation of creatine phosphokinase,21408,Biological anomaly,36547,Disorder,1
6043,3233,3206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206,Stüve-Wiedemann syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,18528,206583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583,Adult polyglucosan body disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3238,2729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729,Okamoto syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3243,65,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65,Leber congenital amaurosis,21394,Disease,36547,Disorder,4
6043,3247,321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321,Multiple osteochondromas,21394,Disease,36547,Disorder,5
6043,3245,144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144,Lynch syndrome,21394,Disease,36547,Disorder,1
6043,18540,206647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647,Myotonic dystrophy,21436,Clinical group,36540,Group of disorders,12
6043,3244,110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110,Bardet-Biedl syndrome,21394,Disease,36547,Disorder,8
6043,3165,2756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756,Orofaciodigital syndrome type 10,21401,Malformation syndrome,36547,Disorder,1
6043,3167,2326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326,Kallmann syndrome-heart disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3161,1130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130,Arachnodactyly-intellectual disability-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3157,3207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3152,2058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058,Fryns-Smeets-Thiry syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3155,2538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538,Microgastria-limb reduction defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3154,1192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3148,2062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062,Progressive non-infectious anterior vertebral fusion,21401,Malformation syndrome,36547,Disorder,2
6043,3149,2015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015,Cleft palate-short stature-vertebral anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3150,2427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427,Macrocephaly-short stature-paraplegia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3144,2898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898,X-linked intellectual disability-plagiocephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3143,2349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349,Muscular pseudohypertrophy-hypothyroidism syndrome,21394,Disease,36547,Disorder,1
6043,3136,1423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423,Lethal recessive chondrodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,3137,2183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183,Hydrocephalus-obesity-hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3198,1114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114,Aplasia cutis congenita,21401,Malformation syndrome,36547,Disorder,3
6043,3191,1101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3189,2184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184,Hydrocephaly-low insertion umbilicus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18613,208650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650,Cryopyrin-associated periodic syndrome,21436,Clinical group,36540,Group of disorders,1
6043,3187,1272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272,Aymé-Gripp syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18608,208513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513,Spinocerebellar ataxia type 29,21394,Disease,36547,Disorder,2
6043,3182,1485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",21401,Malformation syndrome,36547,Disorder,2
6043,3183,3051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051,Intellectual disability-sparse hair-brachydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3181,1134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134,Isolated arrhinia,21401,Malformation syndrome,36547,Disorder,2
6043,3174,1768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768,Familial caudal dysgenesis,21401,Malformation syndrome,36547,Disorder,2
6043,3175,2204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204,Dysplastic cortical hyperostosis,21401,Malformation syndrome,36547,Disorder,2
6043,3173,2963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963,"Progeroid syndrome, Petty type",21401,Malformation syndrome,36547,Disorder,2
6043,3171,2619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619,"Brachydactylous dwarfism, Mseleni type",21394,Disease,36547,Disorder,1
6043,3169,1541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541,"Craniosynostosis, Boston type",21401,Malformation syndrome,36547,Disorder,2
6043,3096,1415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415,Cholestasis-pigmentary retinopathy-cleft palate syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3103,2653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653,Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18654,209335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,21394,Disease,36547,Disorder,1
6043,18655,209341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,21443,Etiological subtype,36554,Subtype of disorder,2
6043,3091,3167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167,Siegler-Brewer-Carey syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3080,1277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3081,2547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547,Microphthalmia-microtia-fetal akinesia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3086,1778,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3087,3074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074,Intellectual disability-short stature-hypertelorism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18682,210110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110,Intermediate osteopetrosis,21401,Malformation syndrome,36547,Disorder,1
6043,3130,3405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405,Umbilical cord ulceration-intestinal atresia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18683,210115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,21394,Disease,36547,Disorder,2
6043,3129,1884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,21394,Disease,36547,Disorder,2
6043,18680,209981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981,IRIDA syndrome,21394,Disease,36547,Disorder,2
6043,18681,209989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209989,Non-papillary transitional cell carcinoma of the bladder,21394,Disease,36547,Disorder,1
6043,3128,1459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459,Celiac disease-epilepsy-cerebral calcification syndrome,21394,Disease,36547,Disorder,2
6043,18686,210133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,21394,Disease,36547,Disorder,2
6043,18687,210136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,21394,Disease,36547,Disorder,2
6043,3134,2582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582,Myalgia-eosinophilia syndrome associated with tryptophan,21401,Malformation syndrome,36547,Disorder,1
6043,18684,210122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122,Congenital alveolar capillary dysplasia,21394,Disease,36547,Disorder,3
6043,18685,210128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128,Urocanic aciduria,21394,Disease,36547,Disorder,2
6043,3132,2254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254,Pontocerebellar hypoplasia type 1,21401,Malformation syndrome,36547,Disorder,2
6043,18674,209959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959,Phacoanaphylactic uveitis,21394,Disease,36547,Disorder,1
6043,18675,209964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964,Solitary rectal ulcer syndrome,21394,Disease,36547,Disorder,2
6043,18672,209951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951,Autosomal recessive spastic paraplegia type 18,21394,Disease,36547,Disorder,2
6043,18673,209956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956,Idiopathic uveal effusion syndrome,21394,Disease,36547,Disorder,1
6043,18678,209973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973,Benign nocturnal alternating hemiplegia of childhood,21394,Disease,36547,Disorder,2
6043,18676,209967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967,Episodic ataxia type 6,21394,Disease,36547,Disorder,2
6043,18677,209970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970,Episodic ataxia type 7,21394,Disease,36547,Disorder,2
6043,3114,2795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795,Fowler urethral sphincter dysfunction syndrome,21394,Disease,36547,Disorder,2
6043,18667,209908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908,Childhood apraxia of speech,21394,Disease,36547,Disorder,2
6043,18666,209905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905,Brain-lung-thyroid syndrome,21394,Disease,36547,Disorder,2
6043,18665,209902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,21394,Disease,36547,Disorder,2
6043,3118,2666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666,Adult familial nephronophthisis-spastic quadriparesia syndrome,21394,Disease,36547,Disorder,2
6043,18671,209943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943,IRVAN syndrome,21394,Disease,36547,Disorder,2
6043,18670,209932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932,Cone dystrophy with supernormal rod response,21394,Disease,36547,Disorder,2
6043,18669,209919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919,Idiopathic copper-associated cirrhosis,21394,Disease,36547,Disorder,1
6043,18668,209916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916,Extraskeletal myxoid chondrosarcoma,21394,Disease,36547,Disorder,1
6043,3106,2519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18656,209370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370,Severe neonatal-onset encephalopathy with microcephaly,21394,Disease,36547,Disorder,2
6043,18662,209867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867,Autosomal dominant rhegmatogenous retinal detachment,21394,Disease,36547,Disorder,2
6043,18695,210571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571,Dystonia 16,21394,Disease,36547,Disorder,2
6043,3525,3286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286,Catecholaminergic polymorphic ventricular tachycardia,21394,Disease,36547,Disorder,1
6043,18692,210272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272,Mal de débarquement,21422,Clinical syndrome,36547,Disorder,1
6043,18693,210548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548,Macrocephaly-intellectual disability-autism syndrome,21394,Disease,36547,Disorder,2
6043,3523,3283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283,His bundle tachycardia,21394,Disease,36547,Disorder,1
6043,18691,210163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163,"Congenital lethal myopathy, Compton-North type",21394,Disease,36547,Disorder,2
6043,3521,3240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240,Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,21394,Disease,36547,Disorder,2
6043,18688,210141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141,Inherited congenital spastic tetraplegia,21394,Disease,36547,Disorder,2
6043,18689,210144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144,"Lethal polymalformative syndrome, Boissel type",21401,Malformation syndrome,36547,Disorder,2
6043,3535,1546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1546,Cryptococcosis,21394,Disease,36547,Disorder,2
6043,3534,67,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67,Amoebiasis due to Entamoeba histolytica,21394,Disease,36547,Disorder,1
6043,3530,2023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023,Undifferentiated pleomorphic sarcoma,21394,Disease,36547,Disorder,3
6043,3529,416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416,Primary hyperoxaluria,21394,Disease,36547,Disorder,3
6043,3528,599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599,Distal myopathy,36561,Category,36540,Group of disorders,1
6043,3542,3392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3392,Tularemia,21394,Disease,36547,Disorder,26
6043,3543,1063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063,Tufted angioma,21394,Disease,36547,Disorder,2
6043,3540,2737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737,Onchocerciasis,21394,Disease,36547,Disorder,2
6043,18709,211067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067,Episodic ataxia type 5,21394,Disease,36547,Disorder,2
6043,3541,3343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343,Toxocariasis,21394,Disease,36547,Disorder,2
6043,18708,211062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062,Hereditary episodic ataxia,36561,Category,36540,Group of disorders,1
6043,3538,2034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2034,Filariasis,36561,Category,36540,Group of disorders,2
6043,3539,2583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2583,Mycetoma,21394,Disease,36547,Disorder,1
6043,3536,1685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1685,Distomatosis,21394,Disease,36547,Disorder,1
6043,18704,211017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017,Spinocerebellar ataxia type 30,21394,Disease,36547,Disorder,2
6043,3537,1902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1902,Ehrlichiosis,21394,Disease,36547,Disorder,3
6043,3551,656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656,Genetic steroid-resistant nephrotic syndrome,21394,Disease,36547,Disorder,1
6043,3549,655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655,Nephronophthisis,21394,Disease,36547,Disorder,2
6043,3547,2415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415,Rare lymphatic malformation,36561,Category,36540,Group of disorders,1
6043,3544,2122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122,Kaposiform hemangioendothelioma,21394,Disease,36547,Disorder,1
6043,3545,2591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591,Infantile myofibromatosis,21394,Disease,36547,Disorder,2
6043,3557,35,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35,Propionic acidemia,21394,Disease,36547,Disorder,8
6043,3556,407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407,Glycine encephalopathy,21394,Disease,36547,Disorder,6
6043,3559,2968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968,Leukocyte adhesion deficiency,21394,Disease,36547,Disorder,3
6043,3558,663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663,Mitochondrial DNA-related progressive external ophthalmoplegia,21394,Disease,36547,Disorder,1
6043,3553,137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137,Congenital disorder of glycosylation,36561,Category,36540,Group of disorders,2
6043,3552,220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220,Denys-Drash syndrome,21394,Disease,36547,Disorder,2
6043,3555,5,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,10
6043,3565,85,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85,Congenital dyserythropoietic anemia,21436,Clinical group,36540,Group of disorders,4
6043,3564,25,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25,Glutaryl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,8
6043,3567,177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177,Rhizomelic chondrodysplasia punctata,21394,Disease,36547,Disorder,1
6043,3566,1246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3560,618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618,Familial melanoma,21394,Disease,36547,Disorder,2
6043,3563,359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359,Pediatric-onset glaucoma of genetic origin,36561,Category,36540,Group of disorders,1
6043,18741,213500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213500,Ovarian cancer,36561,Category,36540,Group of disorders,1
6043,3574,818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818,Smith-Lemli-Opitz syndrome,21401,Malformation syndrome,36547,Disorder,7
6043,18743,213512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512,Malignant mixed Müllerian tumor of the ovary,21394,Disease,36547,Disorder,1
6043,18742,213504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504,Adenocarcinoma of ovary,21394,Disease,36547,Disorder,24
6043,3568,175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175,Cartilage-hair hypoplasia,21394,Disease,36547,Disorder,3
6043,3569,209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209,Cutis laxa,21436,Clinical group,36540,Group of disorders,2
6043,3570,42,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42,Medium chain acyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,17
6043,18748,213557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557,Salivary gland type cancer of the breast,21394,Disease,36547,Disorder,23
6043,3577,2066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066,Gamma-aminobutyric acid transaminase deficiency,21394,Disease,36547,Disorder,2
6043,18747,213531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531,Metaplastic carcinoma of the breast,21394,Disease,36547,Disorder,24
6043,18746,213528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528,Rare adenocarcinoma of the breast,21394,Disease,36547,Disorder,24
6043,3459,3188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188,Congenital pulmonary veins atresia or stenosis,21415,Morphological anomaly,36547,Disorder,1
6043,3463,860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860,Congenitally uncorrected transposition of the great arteries,21415,Morphological anomaly,36547,Disorder,2
6043,3462,185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185,Scimitar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3460,3189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189,Congenital pulmonary valve stenosis,21415,Morphological anomaly,36547,Disorder,20
6043,3466,1464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464,Univentricular heart,21415,Morphological anomaly,36547,Disorder,1
6043,3465,3400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400,Aorto-ventricular tunnel,21415,Morphological anomaly,36547,Disorder,2
6043,18761,213716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716,Squamous cell carcinoma of the corpus uteri,21394,Disease,36547,Disorder,23
6043,18767,213746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746,Transitional cell carcinoma of the corpus uteri,21394,Disease,36547,Disorder,1
6043,3469,1572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572,Common variable immunodeficiency,21394,Disease,36547,Disorder,12
6043,3468,3261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261,Autoimmune lymphoproliferative syndrome,21394,Disease,36547,Disorder,2
6043,3474,2849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849,Perlman syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18771,213772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772,Adenocarcinoma of the cervix uteri,21394,Disease,36547,Disorder,24
6043,18770,213767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767,Squamous cell carcinoma of the cervix uteri,21394,Disease,36547,Disorder,24
6043,18775,213792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792,Adenosarcoma of the cervix uteri,21394,Disease,36547,Disorder,1
6043,18774,213787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787,Carcinosarcoma of the cervix uteri,21394,Disease,36547,Disorder,1
6043,18779,213812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812,Primitive neuroectodermal tumor of the cervix uteri,21394,Disease,36547,Disorder,1
6043,3482,747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747,Autoimmune pulmonary alveolar proteinosis,21394,Disease,36547,Disorder,7
6043,18778,213807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807,Leiomyosarcoma of the cervix uteri,21394,Disease,36547,Disorder,1
6043,3480,2953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953,Musculocontractural Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,3484,3082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082,Intellectual disability-polydactyly-uncombable hair syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3485,782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782,Axenfeld-Rieger syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,3489,3269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269,Congenital radioulnar synostosis,21415,Morphological anomaly,36547,Disorder,2
6043,3488,3259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259,Syndactyly-polydactyly-ear lobe syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3491,3309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309,Tetrasomy 5p,21401,Malformation syndrome,36547,Disorder,1
6043,18787,216675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675,Transposition of the great arteries,36561,Category,36540,Group of disorders,18
6043,18788,216694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694,Congenitally corrected transposition of the great arteries,21415,Morphological anomaly,36547,Disorder,2
6043,18789,216718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718,Isolated congenitally uncorrected transposition of the great arteries,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3495,3411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411,Double uterus-hemivagina-renal agenesis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18790,216729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3494,882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882,Tyrosinemia type 1,21394,Disease,36547,Disorder,7
6043,18791,216796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796,Osteogenesis imperfecta type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3497,903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903,Von Willebrand disease,21394,Disease,36547,Disorder,1
6043,18792,216804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804,Osteogenesis imperfecta type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18793,216812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812,Osteogenesis imperfecta type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18794,216820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820,Osteogenesis imperfecta type 4,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18795,216828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828,Osteogenesis imperfecta type 5,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3498,3474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474,CHIME syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3505,1441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441,Ring chromosome 17 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18803,216978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978,"Niemann-Pick disease type C, late infantile neurologic onset",21450,Clinical subtype,36554,Subtype of disorder,1
6043,3506,361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361,Familial glucocorticoid deficiency,21394,Disease,36547,Disorder,2
6043,18802,216975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",21450,Clinical subtype,36554,Subtype of disorder,1
6043,3508,1787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787,"Acrofacial dysostosis, Palagonia type",21401,Malformation syndrome,36547,Disorder,2
6043,18804,216981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981,"Niemann-Pick disease type C, juvenile neurologic onset",21450,Clinical subtype,36554,Subtype of disorder,1
6043,18807,217008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008,Bockenheimer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18809,217017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017,Zechi-Ceide syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18808,217012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012,Spinocerebellar ataxia type 31,21394,Disease,36547,Disorder,2
6043,3513,2088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088,Fanconi-Bickel syndrome,21394,Disease,36547,Disorder,2
6043,18811,217026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",21401,Malformation syndrome,36547,Disorder,2
6043,18829,217266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266,BNAR syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3404,179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179,Birdshot chorioretinopathy,21394,Disease,36547,Disorder,2
6043,18828,217260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260,Progressive multifocal leukoencephalopathy,21394,Disease,36547,Disorder,2
6043,3402,292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292,Congenital enterovirus infection,21394,Disease,36547,Disorder,1
6043,18827,217253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253,Limbic encephalitis with NMDA receptor antibodies,21394,Disease,36547,Disorder,1
6043,3403,767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767,Polyarteritis nodosa,21394,Disease,36547,Disorder,10
6043,3400,2584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584,Classic mycosis fungoides,21394,Disease,36547,Disorder,2
6043,18825,217093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093,"Mucopolysaccharidosis type 2, attenuated form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,3401,3162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162,Sézary syndrome,21394,Disease,36547,Disorder,3
6043,18824,217085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085,"Mucopolysaccharidosis type 2, severe form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,18823,217080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080,Pulmonary fungal infections in patients deemed at risk,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,18822,217074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074,Rare carcinoma of pancreas,36561,Category,36540,Group of disorders,5
6043,3399,2330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330,Kasabach-Merritt syndrome,21394,Disease,36547,Disorder,2
6043,18821,217071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071,Renal cell carcinoma,21436,Clinical group,36540,Group of disorders,2
6043,18820,217067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067,Pouchitis,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,3394,2700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2700,Noma,21394,Disease,36547,Disorder,1
6043,18819,217064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217064,5-fluorouracil poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,3395,1451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451,CINCA syndrome,21394,Disease,36547,Disorder,1
6043,18818,217059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059,Isolated congenital digital clubbing,21415,Morphological anomaly,36547,Disorder,1
6043,18817,217055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,21394,Disease,36547,Disorder,2
6043,3392,556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556,Malakoplakia,21394,Disease,36547,Disorder,1
6043,18846,217335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335,RIN2 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3423,2745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745,Opitz G/BBB syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,18847,217340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340,17q21.31 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,3422,3260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260,Idiopathic hypereosinophilic syndrome,21394,Disease,36547,Disorder,1
6043,18845,217330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330,REN-related autosomal dominant tubulointerstitial kidney disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3418,2086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086,Optic pathway glioma,21394,Disease,36547,Disorder,2
6043,3417,2566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2566,Chronic Epstein-Barr virus infection syndrome,21394,Disease,36547,Disorder,1
6043,3416,3385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3385,African trypanosomiasis,21394,Disease,36547,Disorder,1
6043,3415,1560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1560,Cysticercosis,21394,Disease,36547,Disorder,1
6043,3414,566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566,Congenital microcoria,21401,Malformation syndrome,36547,Disorder,1
6043,3413,344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=344,Arbovirus fever,36561,Category,36540,Group of disorders,1
6043,3412,341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=341,Viral hemorrhagic fever,36561,Category,36540,Group of disorders,1
6043,3411,340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340,Hemorrhagic fever-renal syndrome,21394,Disease,36547,Disorder,20
6043,3410,2552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2552,Microsporidiosis,21394,Disease,36547,Disorder,1
6043,3409,1171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,21394,Disease,36547,Disorder,2
6043,18861,217560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560,Neuroendocrine cell hyperplasia of infancy,21394,Disease,36547,Disorder,1
6043,18860,217557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557,Pulmonary interstitial glycogenosis,21394,Disease,36547,Disorder,1
6043,3437,1686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686,Cardiac diverticulum,21415,Morphological anomaly,36547,Disorder,1
6043,18862,217563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563,Neonatal acute respiratory distress due to SP-B deficiency,21394,Disease,36547,Disorder,2
6043,18856,217407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407,Hereditary hypotrichosis with recurrent skin vesicles,21394,Disease,36547,Disorder,2
6043,3434,1456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456,Atypical coarctation of aorta,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3435,1457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457,Aorta coarctation,21415,Morphological anomaly,36547,Disorder,20
6043,18853,217390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390,Combined immunodeficiency due to DOCK8 deficiency,21394,Disease,36547,Disorder,2
6043,3428,1132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132,Aortic arch defects,36561,Category,36540,Group of disorders,1
6043,18852,217385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385,17p13.3 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18855,217399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399,Congenital insensitivity to pain with hyperhidrosis,21394,Disease,36547,Disorder,2
6043,18854,217396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396,Progressive polyneuropathy with bilateral striatal necrosis,21394,Disease,36547,Disorder,2
6043,3424,982,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982,Pulmonary valve agenesis,21436,Clinical group,36540,Group of disorders,1
6043,18849,217371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,21394,Disease,36547,Disorder,2
6043,18848,217346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346,19q13.11 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3425,980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980,Absence of the pulmonary artery,21415,Morphological anomaly,36547,Disorder,2
6043,18851,217382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,21394,Disease,36547,Disorder,2
6043,3426,1054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054,Aneurysm of sinus of Valsalva,21415,Morphological anomaly,36547,Disorder,1
6043,18850,217377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377,Microduplication Xp11.22p11.23 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18879,217622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622,Sensorineural deafness with dilated cardiomyopathy,21394,Disease,36547,Disorder,2
6043,3454,3092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092,Fixed subaortic stenosis,21415,Morphological anomaly,36547,Disorder,1
6043,3448,2299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299,Aortic arch interruption,21415,Morphological anomaly,36547,Disorder,2
6043,3451,3427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427,Double outlet left ventricle,21415,Morphological anomaly,36547,Disorder,2
6043,3450,3426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426,Double outlet right ventricle,21415,Morphological anomaly,36547,Disorder,2
6043,3445,439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439,Isolated right ventricular hypoplasia,21415,Morphological anomaly,36547,Disorder,1
6043,3444,422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422,Idiopathic/heritable pulmonary arterial hypertension,21394,Disease,36547,Disorder,6
6043,3441,2038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038,Pulmonary arteriovenous malformation,21415,Morphological anomaly,36547,Disorder,3
6043,3443,2041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041,Coronary arterial fistula,21415,Morphological anomaly,36547,Disorder,1
6043,3338,282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282,Frontotemporal dementia,21436,Clinical group,36540,Group of disorders,2
6043,3336,331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331,Congenital factor XIII deficiency,21394,Disease,36547,Disorder,2
6043,3343,159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159,Carnitine-acylcarnitine translocase deficiency,21394,Disease,36547,Disorder,2
6043,3340,542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542,Primary cutaneous lymphoma,36561,Category,36540,Group of disorders,2
6043,3341,707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707,Plague,21394,Disease,36547,Disorder,2
6043,3331,335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335,Congenital fibrinogen deficiency,21394,Disease,36547,Disorder,1
6043,3335,79,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79,Congenital alpha2-antiplasmin deficiency,21394,Disease,36547,Disorder,2
6043,18885,217656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656,Familial isolated arrhythmogenic right ventricular dysplasia,21394,Disease,36547,Disorder,1
6043,3332,1070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070,Anisakiasis,21394,Disease,36547,Disorder,3
6043,3333,1467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467,Cogan syndrome,21394,Disease,36547,Disorder,2
6043,3355,2157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157,Histidinemia,21394,Disease,36547,Disorder,4
6043,3354,3124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124,Saccharopinuria,21394,Disease,36547,Disorder,1
6043,18907,220407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407,Limited systemic sclerosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18904,220386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386,Semilobar holoprosencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3353,2203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203,Hyperlysinemia,21394,Disease,36547,Disorder,1
6043,18905,220393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393,Diffuse cutaneous systemic sclerosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3359,332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332,Congenital intrinsic factor deficiency,21394,Disease,36547,Disorder,2
6043,18910,220448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448,Macrothrombocytopenia with mitral valve insufficiency,21394,Disease,36547,Disorder,2
6043,18908,220436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436,Quebec platelet disorder,21394,Disease,36547,Disorder,2
6043,3356,2195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195,Dicarboxylic aminoaciduria,21394,Disease,36547,Disorder,1
6043,3351,2170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170,Methylcobalamin deficiency type cblG,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18903,220295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295,Xeroderma pigmentosum-Cockayne syndrome complex,21394,Disease,36547,Disorder,2
6043,3349,414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414,Gyrate atrophy of choroid and retina,21394,Disease,36547,Disorder,3
6043,3369,622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622,Homocystinuria without methylmalonic aciduria,21394,Disease,36547,Disorder,2
6043,3370,927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927,Hyperammonemia due to N-acetylglutamate synthase deficiency,21394,Disease,36547,Disorder,1
6043,3374,2880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880,Phosphoenolpyruvate carboxykinase deficiency,21394,Disease,36547,Disorder,2
6043,3360,941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941,D-glyceric aciduria,21394,Disease,36547,Disorder,1
6043,18913,220465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465,Laron syndrome with immunodeficiency,21394,Disease,36547,Disorder,2
6043,18915,220489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489,Rare hereditary hemochromatosis,36561,Category,36540,Group of disorders,1
6043,3362,19,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19,2-hydroxyglutaric aciduria,21436,Clinical group,36540,Group of disorders,1
6043,3363,2843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843,Pentosuria,21394,Disease,36547,Disorder,1
6043,18917,220497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497,Joubert syndrome with renal defect,21401,Malformation syndrome,36547,Disorder,1
6043,3365,212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212,Cystathioninuria,21394,Disease,36547,Disorder,3
6043,18916,220493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493,Joubert syndrome with ocular defect,21401,Malformation syndrome,36547,Disorder,1
6043,3366,470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470,Lysinuric protein intolerance,21394,Disease,36547,Disorder,5
6043,18936,221074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074,Marchiafava-Bignami disease,21394,Disease,36547,Disorder,2
6043,3384,145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145,Hereditary breast and ovarian cancer syndrome,21394,Disease,36547,Disorder,2
6043,3387,2965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965,Prolactinoma,21394,Disease,36547,Disorder,4
6043,18939,221091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091,Trigeminal neuralgia,21394,Disease,36547,Disorder,3
6043,3386,538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538,Lymphangioleiomyomatosis,21394,Disease,36547,Disorder,13
6043,18940,221098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098,Glossopharyngeal neuralgia,21394,Disease,36547,Disorder,2
6043,3388,2942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942,Postpoliomyelitis syndrome,21394,Disease,36547,Disorder,1
6043,3391,1578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3377,3208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208,Isolated succinate-CoQ reductase deficiency,21394,Disease,36547,Disorder,2
6043,18929,221008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008,Rothmund-Thomson syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3376,24,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24,Fumaric aciduria,21394,Disease,36547,Disorder,2
6043,18930,221016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016,Rothmund-Thomson syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,18931,221039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039,"Hereditary sclerosing poikiloderma, Weary type",21394,Disease,36547,Disorder,2
6043,3381,851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851,Paris-Trousseau thrombocytopenia,21394,Disease,36547,Disorder,2
6043,18932,221043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,21394,Disease,36547,Disorder,2
6043,18933,221046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046,Poikiloderma with neutropenia,21394,Disease,36547,Disorder,2
6043,3383,745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745,Severe hereditary thrombophilia due to congenital protein C deficiency,21394,Disease,36547,Disorder,1
6043,18934,221054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054,Acrocephalopolydactyly,21401,Malformation syndrome,36547,Disorder,2
6043,18935,221061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061,Familial cerebral cavernous malformation,21401,Malformation syndrome,36547,Disorder,1
6043,3382,849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849,Glanzmann thrombasthenia,21394,Disease,36547,Disorder,1
6043,18978,225154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154,Familial infantile bilateral striatal necrosis,21394,Disease,36547,Disorder,1
6043,18976,225123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123,Hemochromatosis type 3,21394,Disease,36547,Disorder,2
6043,18977,225147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147,Sporadic infantile bilateral striatal necrosis,21394,Disease,36547,Disorder,1
6043,18974,223727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727,Bone sarcoma,21436,Clinical group,36540,Group of disorders,2
6043,18945,221120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120,Pseudoaminopterin syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,18946,221126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126,Fowler vasculopaty,21401,Malformation syndrome,36547,Disorder,2
6043,18947,221139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139,Combined immunodeficiency with faciooculoskeletal anomalies,21394,Disease,36547,Disorder,2
6043,18948,221142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142,Confetti-like macular atrophy,21394,Disease,36547,Disorder,2
6043,18949,221145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",21401,Malformation syndrome,36547,Disorder,2
6043,18950,221150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221150,Pitt-Hopkins-like syndrome,21394,Disease,36547,Disorder,2
6043,19062,228003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003,Severe combined immunodeficiency due to CORO1A deficiency,21394,Disease,36547,Disorder,2
6043,3764,3398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3398,Thymic epithelial neoplasm,36561,Category,36540,Group of disorders,3
6043,19061,228000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000,Idiopathic CD4 lymphocytopenia,21408,Biological anomaly,36547,Disorder,1
6043,3765,547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547,Non-Hodgkin lymphoma,36561,Category,36540,Group of disorders,2
6043,3762,842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842,Testicular seminomatous germ cell tumor,21394,Disease,36547,Disorder,3
6043,19058,227976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976,"Autosomal recessive optic atrophy, OPA7 type",21394,Disease,36547,Disorder,2
6043,19057,227972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227972,Toxic oil syndrome,21394,Disease,36547,Disorder,2
6043,19056,227796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796,Fundus albipunctatus,21394,Disease,36547,Disorder,1
6043,19071,228123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123,Coccidioidomycosis,21394,Disease,36547,Disorder,1
6043,19070,228119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228119,Fusariosis,21394,Disease,36547,Disorder,1
6043,19069,228116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116,Hughes-Stovin syndrome,21394,Disease,36547,Disorder,2
6043,19068,228113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113,Anal fistula,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,2
6043,3771,3399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399,Germ cell tumor,36561,Category,36540,Group of disorders,1
6043,3768,389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389,Langerhans cell histiocytosis,21394,Disease,36547,Disorder,1
6043,19064,228012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,21394,Disease,36547,Disorder,2
6043,3751,616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616,Medulloblastoma,21394,Disease,36547,Disorder,3
6043,3750,301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301,Ependymal tumor,21436,Clinical group,36540,Group of disorders,5
6043,3749,541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,21436,Clinical group,36540,Group of disorders,2
6043,3747,543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543,Burkitt lymphoma,21394,Disease,36547,Disorder,4
6043,3759,319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319,Skeletal Ewing sarcoma,21394,Disease,36547,Disorder,3
6043,3758,668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668,Osteosarcoma,21394,Disease,36547,Disorder,4
6043,19053,227510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510,"Multiple system atrophy, cerebellar type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,3754,94,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94,Astrocytoma,21436,Clinical group,36540,Group of disorders,25
6043,3752,360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360,Glioblastoma,21394,Disease,36547,Disorder,7
6043,19029,226292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292,Permanent congenital hypothyroidism,36561,Category,36540,Group of disorders,2
6043,3732,513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513,Acute lymphoblastic leukemia,21436,Clinical group,36540,Group of disorders,5
6043,3733,1957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957,Esthesioneuroblastoma,21394,Disease,36547,Disorder,2
6043,19031,226298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298,Central congenital hypothyroidism,21436,Clinical group,36540,Group of disorders,1
6043,3734,2030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030,Fibrosarcoma,21394,Disease,36547,Disorder,2
6043,3735,2126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126,Solitary fibrous tumor/hemangiopericytoma,21394,Disease,36547,Disorder,1
6043,19030,226295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295,Primary congenital hypothyroidism,21436,Clinical group,36540,Group of disorders,2
6043,3728,758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758,Pseudoxanthoma elasticum,21394,Disease,36547,Disorder,1
6043,3729,419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419,Hyperprolinemia type 1,21394,Disease,36547,Disorder,1
6043,3731,1501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501,Adrenocortical carcinoma,21394,Disease,36547,Disorder,25
6043,19033,226307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,21394,Disease,36547,Disorder,1
6043,3737,3148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148,Malignant peripheral nerve sheath tumor,21394,Disease,36547,Disorder,2
6043,3738,3273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273,Synovial sarcoma,21394,Disease,36547,Disorder,1
6043,19034,226310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226310,Peripheral hypothyroidism,21436,Clinical group,36540,Group of disorders,1
6043,3739,391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391,Classic Hodgkin lymphoma,21394,Disease,36547,Disorder,30
6043,3717,2260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260,Oligomeganephronia,21415,Morphological anomaly,36547,Disorder,1
6043,3716,503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503,Larsen syndrome,21401,Malformation syndrome,36547,Disorder,4
6043,3719,1652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652,Dent disease,21394,Disease,36547,Disorder,2
6043,3713,2542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542,Isolated microphthalmia-anophthalmia-coloboma,21436,Clinical group,36540,Group of disorders,5
6043,3712,3280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280,Syringomyelia,21436,Clinical group,36540,Group of disorders,5
6043,3715,2478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478,Megalencephalic leukoencephalopathy with subcortical cysts,21394,Disease,36547,Disorder,2
6043,3727,3337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337,Primary Fanconi renotubular syndrome,21394,Disease,36547,Disorder,1
6043,3726,223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223,Nephrogenic diabetes insipidus,21394,Disease,36547,Disorder,2
6043,3723,757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757,Pseudohypoaldosteronism type 2,21394,Disease,36547,Disorder,2
6043,19131,228423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423,Monocytopenia with susceptibility to infections,21394,Disease,36547,Disorder,2
6043,3705,521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521,Chronic myeloid leukemia,21394,Disease,36547,Disorder,5
6043,19128,228415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415,5q35 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3704,132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132,Butyrylcholinesterase deficiency,21394,Disease,36547,Disorder,1
6043,3711,1172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172,Autosomal recessive cerebellar ataxia,36561,Category,36540,Group of disorders,5
6043,19134,229717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717,Isolated agammaglobulinemia,21394,Disease,36547,Disorder,1
6043,19132,228426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426,Syndromic multisystem autoimmune disease due to Itch deficiency,21394,Disease,36547,Disorder,2
6043,3709,2345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345,Isolated Klippel-Feil syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3708,1333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333,Familial pancreatic carcinoma,21394,Disease,36547,Disorder,1
6043,19123,228396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19120,228387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,21394,Disease,36547,Disorder,2
6043,19121,228390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19127,228410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410,Polyvalvular heart disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19124,228399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399,8q12 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3700,2781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781,Osteopetrosis and related disorders,21436,Clinical group,36540,Group of disorders,2
6043,19125,228402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402,2q23.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19112,228357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228357,CLN9 disease,21443,Etiological subtype,36554,Subtype of disorder,2
6043,19119,228384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384,5q14.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19118,228379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379,Virus-associated trichodysplasia spinulosa,21394,Disease,36547,Disorder,2
6043,19117,228374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374,Charcot-Marie-Tooth disease type 2B5,21394,Disease,36547,Disorder,2
6043,19116,228371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371,Foodborne botulism,21450,Clinical subtype,36554,Subtype of disorder,4
6043,19105,228329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329,CLN1 disease,21443,Etiological subtype,36554,Subtype of disorder,1
6043,19096,228290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290,White fibrous papulosis of the neck,21394,Disease,36547,Disorder,1
6043,19097,228293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293,Pseudoxanthoma elasticum-like papillary dermal elastolysis,21394,Disease,36547,Disorder,1
6043,19098,228299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299,Mid-dermal elastolysis,21394,Disease,36547,Disorder,1
6043,19099,228302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,19100,228305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,19101,228308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,19102,228312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312,"Autoimmune hemolytic anemia, cold type",21436,Clinical group,36540,Group of disorders,1
6043,19088,228240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240,Elastoderma,21394,Disease,36547,Disorder,2
6043,3664,135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135,CACH syndrome,21394,Disease,36547,Disorder,2
6043,19090,228247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247,Acquired pseudoxanthoma elasticum,21394,Disease,36547,Disorder,2
6043,19091,228254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254,Elastoma,21394,Disease,36547,Disorder,1
6043,19092,228264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264,Papular elastorrhexis,21394,Disease,36547,Disorder,1
6043,19093,228272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272,Primary anetoderma,21394,Disease,36547,Disorder,1
6043,19094,228277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277,Familial anetoderma,21394,Disease,36547,Disorder,2
6043,19095,228285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285,Acquired cutis laxa,21394,Disease,36547,Disorder,1
6043,19081,228190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,3656,3203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203,Overhydrated hereditary stomatocytosis,21394,Disease,36547,Disorder,2
6043,3657,3202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202,Dehydrated hereditary stomatocytosis,21394,Disease,36547,Disorder,2
6043,19087,228236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236,Linear focal elastosis,21394,Disease,36547,Disorder,2
6043,19086,228227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227,Late-onset focal dermal elastosis,21394,Disease,36547,Disorder,2
6043,19072,228140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140,"Idiopathic ventricular fibrillation, non Brugada type",21394,Disease,36547,Disorder,1
6043,3650,1018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018,X-linked Alport syndrome-diffuse leiomyomatosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19075,228165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165,Baló concentric sclerosis,21394,Disease,36547,Disorder,1
6043,3651,306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306,Benign familial infantile epilepsy,21394,Disease,36547,Disorder,1
6043,19074,228157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157,Marburg acute multiple sclerosis,21394,Disease,36547,Disorder,1
6043,3652,328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328,Congenital factor X deficiency,21394,Disease,36547,Disorder,1
6043,19077,228174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,21394,Disease,36547,Disorder,2
6043,19076,228169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169,Autosomal dominant striatal neurodegeneration,21394,Disease,36547,Disorder,2
6043,3653,2132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132,Hemoglobin C disease,21394,Disease,36547,Disorder,2
6043,3654,2133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133,Hemoglobin E disease,21394,Disease,36547,Disorder,1
6043,19078,228179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,21394,Disease,36547,Disorder,2
6043,3655,288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288,Hereditary elliptocytosis,21394,Disease,36547,Disorder,1
6043,19198,231531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531,Hermansky-Pudlak syndrome type 7,21450,Clinical subtype,36554,Subtype of disorder,2
6043,19199,231537,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231537,Hermansky-Pudlak syndrome type 8,21450,Clinical subtype,36554,Subtype of disorder,2
6043,19196,231512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512,Hermansky-Pudlak syndrome without pulmonary fibrosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3644,1320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320,Idiopathic camptocormia,21415,Morphological anomaly,36547,Disorder,1
6043,3643,256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256,Early-onset generalized limb-onset dystonia,21394,Disease,36547,Disorder,5
6043,19195,231500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500,Hermansky-Pudlak syndrome with pulmonary fibrosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3641,441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441,Pure autonomic failure,21394,Disease,36547,Disorder,1
6043,3640,1576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576,Infantile bilateral striatal necrosis,21436,Clinical group,36540,Group of disorders,1
6043,3637,2073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073,Narcolepsy type 1,21394,Disease,36547,Disorder,7
6043,19184,231401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401,Alpha-thalassemia-myelodysplastic syndrome,21394,Disease,36547,Disorder,2
6043,3632,1866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866,"Focal, segmental or multifocal dystonia",36561,Category,36540,Group of disorders,8
6043,19182,231393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,21394,Disease,36547,Disorder,1
6043,3631,809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809,Mixed connective tissue disease,21394,Disease,36547,Disorder,6
6043,19177,231249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249,Hemoglobin E-beta-thalassemia syndrome,21394,Disease,36547,Disorder,1
6043,19176,231242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242,Hemoglobin C-beta-thalassemia syndrome,21394,Disease,36547,Disorder,1
6043,19175,231237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237,Delta-beta-thalassemia,21394,Disease,36547,Disorder,1
6043,19173,231226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226,Dominant beta-thalassemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3621,18,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18,Distal renal tubular acidosis,21394,Disease,36547,Disorder,1
6043,19172,231222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222,Beta-thalassemia intermedia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,3618,160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160,Castleman disease,21394,Disease,36547,Disorder,2
6043,19171,231214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214,Beta-thalassemia major,21450,Clinical subtype,36554,Subtype of disorder,4
6043,3619,2841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841,Familial benign chronic pemphigus,21394,Disease,36547,Disorder,1
6043,19169,231183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183,Usher syndrome type 3,21450,Clinical subtype,36554,Subtype of disorder,3
6043,3616,347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347,Frasier syndrome,21394,Disease,36547,Disorder,2
6043,19168,231178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178,Usher syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3613,1670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670,Chronic diarrhea with villous atrophy,21394,Disease,36547,Disorder,2
6043,19165,231154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154,Combined immunodeficiency due to partial RAG1 deficiency,21394,Disease,36547,Disorder,2
6043,19167,231169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169,Usher syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3611,2194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2194,Anti-HLA hyperimmunization,21394,Disease,36547,Disorder,1
6043,19163,231147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,21443,Etiological subtype,36554,Subtype of disorder,1
6043,19152,231080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080,High-grade dysplasia in patients with Barrett esophagus,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,19153,231108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108,Familial rhabdoid tumor,21450,Clinical subtype,36554,Subtype of disorder,2
6043,3600,405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405,Familial hypocalciuric hypercalcemia,21394,Disease,36547,Disorder,1
6043,19154,231111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111,Drug-induced lupus erythematosus,21394,Disease,36547,Disorder,1
6043,3596,1223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223,Balantidiasis,21394,Disease,36547,Disorder,1
6043,19148,231040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040,Familial generalized lentiginosis,21394,Disease,36547,Disorder,1
6043,3599,3318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318,Essential thrombocythemia,21394,Disease,36547,Disorder,5
6043,19145,230857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,21394,Disease,36547,Disorder,1
6043,19144,230851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851,Cardiac-valvular Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,19147,231031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031,Erythema palmare hereditarium,21394,Disease,36547,Disorder,1
6043,3595,913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913,Zollinger-Ellison syndrome,21394,Disease,36547,Disorder,6
6043,19146,231013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013,Congenital trigeminal anesthesia,21394,Disease,36547,Disorder,1
6043,19141,230800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800,Toxin-mediated infectious botulism,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19142,230839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839,Classical-like Ehlers-Danlos syndrome type 1,21394,Disease,36547,Disorder,2
6043,3586,519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519,Acute myeloid leukemia,21436,Clinical group,36540,Group of disorders,7
6043,19251,235936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936,Familial hyperaldosteronism,21436,Clinical group,36540,Group of disorders,1
6043,19263,238446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446,15q11q13 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19262,238329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329,Severe X-linked mitochondrial encephalomyopathy,21394,Disease,36547,Disorder,2
6043,19202,231573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573,Congenital erosive and vesicular dermatosis,21394,Disease,36547,Disorder,2
6043,19203,231580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580,Primary unilateral adrenal hyperplasia,21394,Disease,36547,Disorder,1
6043,19200,231556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,19201,231568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568,Generalized dominant dystrophic epidermolysis bullosa,21394,Disease,36547,Disorder,1
6043,19207,231637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231637,Rare surgically correctable form of primary aldosteronism,36561,Category,36540,Group of disorders,1
6043,19205,231625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625,Adrenocortical carcinoma with pure aldosterone hypersecretion,21394,Disease,36547,Disorder,1
6043,4043,1900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,4042,286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286,Vascular Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,1
6043,4041,285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285,Hypermobile Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,1
6043,19214,231736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19215,231742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,4046,257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257,Epidermolysis bullosa simplex with muscular dystrophy,21394,Disease,36547,Disorder,2
6043,4045,1901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901,Dermatosparaxis Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,19213,231720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,4044,1899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899,Arthrochalasia Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,1
6043,4048,839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839,"Congenital nephrotic syndrome, Finnish type",21394,Disease,36547,Disorder,2
6043,4054,531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531,Miller-Dieker syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,4052,3394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3394,Soft tissue sarcoma,21436,Clinical group,36540,Group of disorders,3
6043,4058,1084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084,Isolated lissencephaly type 1 without known genetic defects,21394,Disease,36547,Disorder,1
6043,4059,1083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083,Microlissencephaly,21415,Morphological anomaly,36547,Disorder,1
6043,4057,452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452,X-linked lissencephaly with abnormal genitalia,21401,Malformation syndrome,36547,Disorder,2
6043,19300,238750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750,4q21 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19301,238755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238755,Autosomal dominant limb-girdle muscular dystrophy type 1H,21394,Disease,36547,Disorder,2
6043,19302,238763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,21401,Malformation syndrome,36547,Disorder,2
6043,19298,238722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722,Familial congenital mirror movements,21394,Disease,36547,Disorder,2
6043,19299,238744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744,Mammary-digital-nail syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19305,238769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769,1q44 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,19271,238517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517,Hypotonia-cystinuria type 1 syndrome,21436,Clinical group,36540,Group of disorders,1
6043,19269,238505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505,Combined immunodeficiency due to CD27 deficiency,21394,Disease,36547,Disorder,2
6043,19266,238468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468,Hypohidrotic ectodermal dysplasia,21394,Disease,36547,Disorder,1
6043,19267,238475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475,Familial hypercholanemia,21394,Disease,36547,Disorder,2
6043,19264,238455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455,Infantile dystonia-parkinsonism,21394,Disease,36547,Disorder,2
6043,19265,238459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459,SLC35A1-CDG,21394,Disease,36547,Disorder,2
6043,19278,238578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578,Familial clubfoot due to 17q23.1q23.2 microduplication,21443,Etiological subtype,36554,Subtype of disorder,2
6043,19279,238583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,21394,Disease,36547,Disorder,2
6043,19276,238557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557,Chuvash erythrocytosis,21394,Disease,36547,Disorder,1
6043,19277,238569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,21394,Disease,36547,Disorder,2
6043,19275,238547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547,Acquired secondary polycythemia,36561,Category,36540,Group of disorders,1
6043,19272,238523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523,Atypical hypotonia-cystinuria syndrome,21394,Disease,36547,Disorder,2
6043,19273,238536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536,Congenital secondary polycythemia,36561,Category,36540,Group of disorders,1
6043,19286,238624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624,Idiopathic intracranial hypertension,21394,Disease,36547,Disorder,1
6043,19285,238621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621,Ileal pouch anal anastomosis related faecal incontinence,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,19281,238606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606,Primary orthostatic tremor,21394,Disease,36547,Disorder,2
6043,19280,238593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593,IgG4-related mesenteritis,21394,Disease,36547,Disorder,1
6043,19293,238670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670,Isolated thyrotropin-releasing hormone deficiency,21394,Disease,36547,Disorder,1
6043,19291,238654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654,"Congenital primary megaureter, nonrefluxing and unobstructed form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,19290,238650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650,"Congenital primary megaureter, refluxing form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,19289,238646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646,"Congenital primary megaureter, obstructed form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,19288,238642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642,"Primary megaureter, adult-onset form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,19331,240071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071,Classic progressive supranuclear palsy syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19335,240112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,19334,240103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103,Progressive supranuclear palsy-corticobasal syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19333,240094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19332,240085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085,Progressive supranuclear palsy-parkinsonism syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,19345,240760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760,Nijmegen breakage syndrome-like disorder,21401,Malformation syndrome,36547,Disorder,2
6043,22001,331226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226,Susceptibility to infection due to TYK2 deficiency,21394,Disease,36547,Disorder,2
6043,22003,331235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235,Selective IgM deficiency,21394,Disease,36547,Disorder,1
6043,21992,331176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,21394,Disease,36547,Disorder,2
6043,21994,331187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187,Immunodeficiency due to MASP-2 deficiency,21394,Disease,36547,Disorder,2
6043,21995,331190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190,Immunodeficiency due to ficolin3 deficiency,21394,Disease,36547,Disorder,2
6043,21997,331206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,21394,Disease,36547,Disorder,1
6043,21968,330064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064,Chronic actinic dermatitis,21394,Disease,36547,Disorder,2
6043,21955,330001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001,Wild type ATTR amyloidosis,21394,Disease,36547,Disorder,1
6043,21952,329977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977,Classic neuroendocrine tumor of appendix,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21953,329984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984,Goblet cell carcinoma,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21958,330012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012,High altitude pulmonary edema,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,21959,330015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330015,Lead poisoning,21394,Disease,36547,Disorder,2
6043,21962,330032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032,Hemoglobin Lepore-beta-thalassemia syndrome,21394,Disease,36547,Disorder,1
6043,21963,330041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041,Hemoglobin M disease,21394,Disease,36547,Disorder,1
6043,21960,330021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021,Mercury poisoning,21394,Disease,36547,Disorder,1
6043,21961,330029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029,Hypotrichosis-deafness syndrome,21394,Disease,36547,Disorder,2
6043,21966,330058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058,Hydroa vacciniforme,21394,Disease,36547,Disorder,2
6043,21967,330061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061,Actinic prurigo,21394,Disease,36547,Disorder,1
6043,21964,330050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21965,330054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,21941,329813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813,Mosaic genome-wide paternal uniparental disomy,21401,Malformation syndrome,36547,Disorder,2
6043,21940,329802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802,5p13 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21943,329883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883,Non-hypoproteinemic hypertrophic gastropathy,21394,Disease,36547,Disorder,2
6043,21942,329874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874,Idiopathic giant cell myocarditis,21394,Disease,36547,Disorder,1
6043,21937,329475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475,Spastic paraplegia-Paget disease of bone syndrome,21394,Disease,36547,Disorder,2
6043,21939,329481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481,Lipoprotein glomerulopathy,21394,Disease,36547,Disorder,2
6043,21938,329478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478,Adult-onset distal myopathy due to VCP mutation,21394,Disease,36547,Disorder,2
6043,21949,329942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,21951,329971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971,Generalized juvenile polyposis/juvenile polyposis coli,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21950,329967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967,Intermittent hydrarthrosis,21394,Disease,36547,Disorder,1
6043,21947,329918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918,C3 glomerulopathy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21924,329308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308,Fatty acid hydroxylase-associated neurodegeneration,21394,Disease,36547,Disorder,1
6043,21925,329314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,21394,Disease,36547,Disorder,1
6043,21926,329319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319,Thrombocythemia with distal limb defects,21394,Disease,36547,Disorder,2
6043,21927,329324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329324,Inverse Klippel-Trénaunay syndrome,21394,Disease,36547,Disorder,2
6043,21922,329284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284,Beta-propeller protein-associated neurodegeneration,21394,Disease,36547,Disorder,2
6043,21933,329457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457,Distal arthrogryposis type 5D,21394,Disease,36547,Disorder,2
6043,21934,329466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466,"Autosomal dominant focal dystonia, DYT25 type",21394,Disease,36547,Disorder,2
6043,21935,329469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469,Acute megakaryoblastic leukemia without Down syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21928,329329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329,Autosomal recessive frontotemporal pachygyria,21401,Malformation syndrome,36547,Disorder,2
6043,21929,329332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21930,329336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,21394,Disease,36547,Disorder,1
6043,21931,329341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329341,Limbic encephalitis with DPP6 antibodies,21394,Disease,36547,Disorder,2
6043,21911,329228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,21910,329224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224,Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21909,329217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217,Cerebral sinovenous thrombosis,21394,Disease,36547,Disorder,2
6043,21908,329211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,21394,Disease,36547,Disorder,2
6043,21906,329195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195,Developmental delay with autism spectrum disorder and gait instability,21394,Disease,36547,Disorder,2
6043,21905,329191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191,Tall stature-scoliosis-macrodactyly of the great toes syndrome,21394,Disease,36547,Disorder,2
6043,21904,329178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,21394,Disease,36547,Disorder,2
6043,21919,329258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,21394,Disease,36547,Disorder,2
6043,21917,329252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329252,Spondylocostal dysostosis-hypospadias-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,21916,329249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21914,329242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242,Congenital chronic diarrhea with protein-losing enteropathy,21394,Disease,36547,Disorder,2
6043,21913,329235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,21394,Disease,36547,Disorder,2
6043,21903,329173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,21394,Disease,36547,Disorder,2
6043,4511,329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329,Congenital factor XI deficiency,21394,Disease,36547,Disorder,1
6043,4510,1243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243,Best vitelliform macular dystrophy,21394,Disease,36547,Disorder,5
6043,21817,324964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,21394,Disease,36547,Disorder,2
6043,21818,324972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972,MAGIC syndrome,21394,Disease,36547,Disorder,2
6043,21819,324977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977,Proteasome-associated autoinflammatory syndrome,21394,Disease,36547,Disorder,2
6043,21801,324718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718,ABetaA21G amyloidosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21800,324713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713,"ABeta amyloidosis, Italian type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21803,324737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737,SRD5A3-CDG,21394,Disease,36547,Disorder,2
6043,21802,324723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723,"ABeta amyloidosis, Arctic type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21797,324648,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324648,Invasive non-typhoidal salmonellosis,21394,Disease,36547,Disorder,1
6043,21796,324636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636,Autoerythrocyte sensitization syndrome,21394,Disease,36547,Disorder,2
6043,21799,324708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708,"ABeta amyloidosis, Iowa type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21798,324703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703,ABetaL34V amyloidosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21793,324611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,21394,Disease,36547,Disorder,1
6043,21795,324632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632,Hendra virus infection,21394,Disease,36547,Disorder,2
6043,21794,324625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625,Chikungunya,21394,Disease,36547,Disorder,17
6043,21790,324588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588,Familial dyskinesia and facial myokymia,21394,Disease,36547,Disorder,2
6043,21791,324601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601,X-linked cleft palate and ankyloglossia,21401,Malformation syndrome,36547,Disorder,1
6043,21788,324581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581,Benign Samaritan congenital myopathy,21394,Disease,36547,Disorder,2
6043,21789,324585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,21394,Disease,36547,Disorder,2
6043,21786,324569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569,Pontocerebellar hypoplasia type 8,21401,Malformation syndrome,36547,Disorder,2
6043,21787,324575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575,Hyperinsulinism due to HNF1A deficiency,21394,Disease,36547,Disorder,2
6043,21784,324540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21785,324561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,21394,Disease,36547,Disorder,2
6043,21782,324530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,21394,Disease,36547,Disorder,2
6043,21783,324535,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535,Combined oxidative phosphorylation defect type 11,21394,Disease,36547,Disorder,2
6043,21781,324525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525,Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation,21394,Disease,36547,Disorder,2
6043,21778,324442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442,Autosomal recessive axonal neuropathy with neuromyotonia,21394,Disease,36547,Disorder,2
6043,21776,324416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21777,324422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422,ALG13-CDG,21394,Disease,36547,Disorder,2
6043,21774,324410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,21394,Disease,36547,Disorder,2
6043,21769,324381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381,Hereditary inclusion body myopathy type 4,21394,Disease,36547,Disorder,2
6043,21767,324364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,21394,Disease,36547,Disorder,2
6043,21766,324353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353,Congenital achiasma,21415,Morphological anomaly,36547,Disorder,1
6043,21765,324321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321,Sinoatrial node dysfunction and deafness,21394,Disease,36547,Disorder,2
6043,21764,324313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313,9p13 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21763,324307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307,Severe lateral tibial bowing with short stature,21394,Disease,36547,Disorder,2
6043,21762,324299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299,Multiple paragangliomas associated with polycythemia,21394,Disease,36547,Disorder,2
6043,21761,324294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294,T-cell immunodeficiency with epidermodysplasia verruciformis,21394,Disease,36547,Disorder,2
6043,21760,324290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290,Early-onset Lafora body disease,21394,Disease,36547,Disorder,2
6043,21758,324262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21713,320360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360,MT-ATP6-related mitochondrial spastic paraplegia,21394,Disease,36547,Disorder,2
6043,21712,320355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355,Autosomal dominant spastic paraplegia type 41,21394,Disease,36547,Disorder,2
6043,21715,320370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370,Autosomal recessive spastic paraplegia type 43,21394,Disease,36547,Disorder,2
6043,21714,320365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365,Autosomal dominant spastic paraplegia type 36,21394,Disease,36547,Disorder,2
6043,21717,320380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380,Autosomal recessive spastic paraplegia type 54,21394,Disease,36547,Disorder,2
6043,21716,320375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375,Autosomal recessive spastic paraplegia type 55,21394,Disease,36547,Disorder,2
6043,21719,320391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391,Autosomal recessive spastic paraplegia type 46,21394,Disease,36547,Disorder,2
6043,21718,320385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,21394,Disease,36547,Disorder,2
6043,21721,320401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401,Autosomal recessive spastic paraplegia type 44,21394,Disease,36547,Disorder,2
6043,21720,320396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396,Autosomal recessive spastic paraplegia type 45,21394,Disease,36547,Disorder,2
6043,21723,320411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411,Autosomal recessive spastic paraplegia type 56,21394,Disease,36547,Disorder,2
6043,21722,320406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,21670,319543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319543,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,36561,Category,36540,Group of disorders,1
6043,21671,319547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,21394,Disease,36547,Disorder,2
6043,21668,319535,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319535,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,36561,Category,36540,Group of disorders,1
6043,21669,319539,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319539,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,36561,Category,36540,Group of disorders,1
6043,21666,319519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519,Combined oxidative phosphorylation defect type 14,21394,Disease,36547,Disorder,2
6043,21667,319524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524,Combined oxidative phosphorylation defect type 15,21394,Disease,36547,Disorder,2
6043,21664,319509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509,Combined oxidative phosphorylation defect type 9,21394,Disease,36547,Disorder,2
6043,21665,319514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514,Combined oxidative phosphorylation defect type 13,21394,Disease,36547,Disorder,2
6043,21678,319589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,21394,Disease,36547,Disorder,2
6043,21679,319595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,21394,Disease,36547,Disorder,2
6043,21676,319574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,21394,Disease,36547,Disorder,2
6043,21677,319581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,21394,Disease,36547,Disorder,2
6043,21674,319563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,21394,Disease,36547,Disorder,2
6043,21675,319569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,21394,Disease,36547,Disorder,2
6043,21672,319552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,21394,Disease,36547,Disorder,2
6043,21673,319558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,21394,Disease,36547,Disorder,2
6043,21687,319651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651,Constitutional megaloblastic anemia with severe neurologic disease,21394,Disease,36547,Disorder,2
6043,21686,319646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646,PGM1-CDG,21394,Disease,36547,Disorder,2
6043,21685,319640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640,Retinal macular dystrophy type 2,21394,Disease,36547,Disorder,2
6043,21684,319635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635,Amyloidosis cutis dyschromia,21394,Disease,36547,Disorder,2
6043,21683,319623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319623,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21682,319612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319612,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21681,319605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605,X-linked mendelian susceptibility to mycobacterial diseases,21394,Disease,36547,Disorder,2
6043,21680,319600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,21394,Disease,36547,Disorder,2
6043,21692,319678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,21394,Disease,36547,Disorder,2
6043,21691,319675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675,"Microcephalic primordial dwarfism, Dauber type",21401,Malformation syndrome,36547,Disorder,2
6043,21690,319671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671,Alazami syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21639,319276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276,Clear cell renal carcinoma,21394,Disease,36547,Disorder,1
6043,21635,319251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251,Rift valley fever,21394,Disease,36547,Disorder,1
6043,21645,319319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319,Renal medullary carcinoma,21394,Disease,36547,Disorder,1
6043,21641,319298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298,Papillary renal cell carcinoma,21394,Disease,36547,Disorder,1
6043,21642,319303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303,Chromophobe renal cell carcinoma,21394,Disease,36547,Disorder,1
6043,21649,319332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,21394,Disease,36547,Disorder,2
6043,21650,319340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340,Carney complex-trismus-pseudocamptodactyly syndrome,21394,Disease,36547,Disorder,2
6043,21663,319504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504,Combined oxidative phosphorylation defect type 8,21394,Disease,36547,Disorder,2
6043,21624,319195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195,Chondroectodermal dysplasia with night blindness,21394,Disease,36547,Disorder,2
6043,21625,319199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199,Autosomal recessive spastic paraplegia type 53,21394,Disease,36547,Disorder,2
6043,21628,319218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319218,Ebola hemorrhagic fever,21394,Disease,36547,Disorder,3
6043,21618,319160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160,Congenital myopathy with internal nuclei and atypical cores,21394,Disease,36547,Disorder,2
6043,21619,319171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171,Distal 17p13.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21622,319189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189,Familial cortical myoclonus,21394,Disease,36547,Disorder,2
6043,21621,319182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182,Wiedemann-Steiner syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21581,317428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428,Combined immunodeficiency due to ORAI1 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21580,317425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,21394,Disease,36547,Disorder,2
6043,21582,317430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430,Combined immunodeficiency due to STIM1 deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21584,317473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473,Pancytopenia due to IKZF1 mutations,21394,Disease,36547,Disorder,2
6043,21585,317476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",21394,Disease,36547,Disorder,2
6043,21549,315311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,21548,315306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21547,314993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993,Cataract-congenital heart disease-neural tube defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21546,314978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978,X-linked non progressive cerebellar ataxia,21394,Disease,36547,Disorder,2
6043,21545,314970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970,Lymphocytic hypereosinophilic syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21544,314962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962,Secondary hypereosinophilic syndrome,21394,Disease,36547,Disorder,1
6043,21543,314950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950,Primary hypereosinophilic syndrome,21394,Disease,36547,Disorder,1
6043,21538,314918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918,Mild Canavan disease,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21537,314911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911,Severe Canavan disease,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21517,314701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701,Primary systemic amyloidosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,21513,314679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679,Cerebrofacioarticular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21512,314667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667,TMEM165-CDG,21394,Disease,36547,Disorder,2
6043,21515,314689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689,Combined immunodeficiency due to STK4 deficiency,21394,Disease,36547,Disorder,2
6043,21514,314684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684,Primary bone lymphoma,21394,Disease,36547,Disorder,1
6043,21509,314652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652,Variant ABeta2M amyloidosis,21394,Disease,36547,Disorder,2
6043,21508,314647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647,Non-progressive cerebellar ataxia with intellectual disability,21394,Disease,36547,Disorder,2
6043,21511,314662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,21394,Disease,36547,Disorder,2
6043,21510,314655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21505,314629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629,CLN11 disease,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21504,314621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621,Duplication of the pituitary gland,21415,Morphological anomaly,36547,Disorder,2
6043,21507,314637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,21394,Disease,36547,Disorder,2
6043,21506,314632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632,ATP13A2-related juvenile neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,2
6043,21532,314802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802,Short stature due to partial GHR deficiency,21394,Disease,36547,Disorder,1
6043,21533,314811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811,Short stature due to GHSR deficiency,21394,Disease,36547,Disorder,2
6043,21535,314889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889,Autosomal dominant proximal renal tubular acidosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21528,314777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777,Familial isolated pituitary adenoma,21394,Disease,36547,Disorder,2
6043,21531,314795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795,SHOX-related short stature,21394,Disease,36547,Disorder,1
6043,21520,314718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,21394,Disease,36547,Disorder,2
6043,21521,314721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721,Atypical dentin dysplasia due to SMOC2 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22486,370127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127,Medich giant platelet syndrome,21394,Disease,36547,Disorder,2
6043,22482,370103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103,"Primary dystonia, DYT17 type",21394,Disease,36547,Disorder,2
6043,22481,370097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097,Oculocutaneous albinism type 6,21394,Disease,36547,Disorder,2
6043,22480,370091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091,Oculocutaneous albinism type 5,21394,Disease,36547,Disorder,2
6043,22491,370348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348,Peripheral primitive neuroectodermal tumor,21394,Disease,36547,Disorder,1
6043,22490,370334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334,Extraskeletal Ewing sarcoma,21394,Disease,36547,Disorder,22
6043,22488,370131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131,White platelet syndrome,21394,Disease,36547,Disorder,2
6043,22471,370046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046,Didymosis aplasticosebacea,21394,Disease,36547,Disorder,2
6043,22468,370034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034,Familial syringomyelia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22469,370039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039,Angora hair nevus,21394,Disease,36547,Disorder,2
6043,22466,370022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,21394,Disease,36547,Disorder,2
6043,22467,370026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,21394,Disease,36547,Disorder,1
6043,22464,370015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015,"Spondyloepimetaphyseal dysplasia, Isidor type",21394,Disease,36547,Disorder,2
6043,22465,370019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370019,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type",21394,Disease,36547,Disorder,2
6043,22479,370088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088,Acute infantile liver failure-multisystemic involvement syndrome,21394,Disease,36547,Disorder,2
6043,22476,370076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076,Fetal carbamazepine syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,22472,370052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052,SCALP syndrome,21394,Disease,36547,Disorder,2
6043,22513,371007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007,Congenital muscular dystrophy with hyperlaxity,21394,Disease,36547,Disorder,2
6043,22512,370997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,21394,Disease,36547,Disorder,2
6043,22500,370921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921,STT3A-CDG,21394,Disease,36547,Disorder,2
6043,22501,370924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924,STT3B-CDG,21394,Disease,36547,Disorder,2
6043,22502,370927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927,SSR4-CDG,21394,Disease,36547,Disorder,2
6043,22503,370930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930,XYLT1-CDG,21394,Disease,36547,Disorder,2
6043,22507,370943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,21394,Disease,36547,Disorder,2
6043,22449,369929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,21394,Disease,36547,Disorder,2
6043,22448,369920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920,Pontocerebellar hypoplasia type 9,21401,Malformation syndrome,36547,Disorder,2
6043,22451,369942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942,CADDS,21394,Disease,36547,Disorder,2
6043,22450,369939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22453,369955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955,"Methylmalonic acidemia with homocystinuria, type cblJ",21450,Clinical subtype,36554,Subtype of disorder,2
6043,22452,369950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,21394,Disease,36547,Disorder,2
6043,22455,369970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,21394,Disease,36547,Disorder,2
6043,22454,369962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962,"Methylmalonic acidemia with homocystinuria, type cblX",21450,Clinical subtype,36554,Subtype of disorder,2
6043,22456,369979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22459,369992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,21394,Disease,36547,Disorder,2
6043,22461,370002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002,Focal palmoplantar keratoderma with joint keratoses,21394,Disease,36547,Disorder,1
6043,22460,369999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999,Diffuse palmoplantar keratoderma with painful fissures,21394,Disease,36547,Disorder,1
6043,22463,370010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22433,369837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22434,369840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840,TRAPPC11-related  limb-girdle muscular dystrophy R18,21394,Disease,36547,Disorder,2
6043,22435,369847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,21394,Disease,36547,Disorder,2
6043,22437,369852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,21394,Disease,36547,Disorder,2
6043,22438,369861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,22439,369867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,21394,Disease,36547,Disorder,2
6043,22440,369873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873,Obesity due to SIM1 deficiency,21443,Etiological subtype,36554,Subtype of disorder,1
6043,22441,369881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881,2p21 microdeletion syndrome without cystinuria,21401,Malformation syndrome,36547,Disorder,2
6043,22442,369886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886,Homozygous 2p21 microdeletion syndrome,21436,Clinical group,36540,Group of disorders,1
6043,22443,369891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,22445,369897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",21394,Disease,36547,Disorder,2
6043,22447,369913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913,Combined oxidative phosphorylation defect type 17,21394,Disease,36547,Disorder,2
6043,22365,364055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055,Severe early-childhood-onset retinal dystrophy,21394,Disease,36547,Disorder,1
6043,22360,364028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028,X-linked intellectual disability due to GRIA3 mutations,21394,Disease,36547,Disorder,2
6043,22361,364033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,21394,Disease,36547,Disorder,1
6043,5016,772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772,Infantile Refsum disease,21394,Disease,36547,Disorder,1
6043,5015,1194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,21394,Disease,36547,Disorder,1
6043,22358,363999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999,Non-immune hydrops fetalis,21450,Clinical subtype,36554,Subtype of disorder,3
6043,5014,1048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048,Isolated anencephaly/exencephaly,21415,Morphological anomaly,36547,Disorder,7
6043,22359,364013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013,Immune hydrops fetalis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,5013,823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823,Isolated spina bifida,21436,Clinical group,36540,Group of disorders,22
6043,22357,363992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,21394,Disease,36547,Disorder,2
6043,22355,363981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981,Charcot-Marie-Tooth disease type 4B3,21394,Disease,36547,Disorder,2
6043,22352,363969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969,Autosomal recessive cerebral atrophy,21394,Disease,36547,Disorder,2
6043,22351,363965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965,Koolen-De Vries syndrome due to a point mutation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22350,363958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958,17q21.31 microdeletion syndrome,21443,Etiological subtype,36554,Subtype of disorder,1
6043,22348,363746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746,Balint syndrome,21394,Disease,36547,Disorder,1
6043,22347,363741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,21394,Disease,36547,Disorder,1
6043,22346,363727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,21394,Disease,36547,Disorder,2
6043,22345,363722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722,Alexander disease type II,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22344,363717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717,Alexander disease type I,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22343,363710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710,Spinocerebellar ataxia type 37,21394,Disease,36547,Disorder,2
6043,22342,363705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705,Craniofaciofrontodigital syndrome,21394,Disease,36547,Disorder,2
6043,22340,363694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,21394,Disease,36547,Disorder,2
6043,22339,363686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,21394,Disease,36547,Disorder,2
6043,22338,363680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680,2p13.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22337,363677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,21394,Disease,36547,Disorder,2
6043,22382,364577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577,Intellectual disability-brachydactyly-Pierre Robin syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22369,364198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198,Bipartite talus,21415,Morphological anomaly,36547,Disorder,2
6043,22298,363417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417,Temtamy preaxial brachydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22296,363409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,21394,Disease,36547,Disorder,2
6043,22297,363412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,21394,Disease,36547,Disorder,2
6043,22302,363429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,21394,Disease,36547,Disorder,2
6043,22303,363432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22301,363424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424,Multiple mitochondrial dysfunctions syndrome type 3,21394,Disease,36547,Disorder,2
6043,22292,363396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396,High myopia-sensorineural deafness syndrome,21394,Disease,36547,Disorder,2
6043,22293,363400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400,Severe neurodegenerative syndrome with lipodystrophy,21394,Disease,36547,Disorder,2
6043,22278,363203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363203,Ring chromosome,36561,Category,36540,Group of disorders,1
6043,22328,363618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618,LMNA-related cardiocutaneous progeria syndrome,21394,Disease,36547,Disorder,2
6043,22329,363623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623,GMPPB-related  limb-girdle muscular dystrophy R19,21394,Disease,36547,Disorder,2
6043,22331,363649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,21394,Disease,36547,Disorder,2
6043,22332,363654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654,X-linked parkinsonism-spasticity syndrome,21394,Disease,36547,Disorder,2
6043,22333,363659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659,20q11.2 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,22334,363665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,21394,Disease,36547,Disorder,2
6043,22320,363540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,21394,Disease,36547,Disorder,2
6043,22322,363549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,21394,Disease,36547,Disorder,2
6043,22323,363558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558,New-onset refractory status epilepticus,21394,Disease,36547,Disorder,1
6043,22324,363567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567,Acute encephalopathy with inflammation-mediated status epilepticus,21436,Clinical group,36540,Group of disorders,1
6043,22325,363579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579,Extragonadal germ cell tumor,36561,Category,36540,Group of disorders,1
6043,22327,363611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611,CTCF-related neurodevelopmental disorder,21394,Disease,36547,Disorder,2
6043,22312,363494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494,Non-seminomatous germ cell tumor of testis,21394,Disease,36547,Disorder,2
6043,22317,363523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,22319,363534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",21394,Disease,36547,Disorder,2
6043,22318,363528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528,Intellectual disability-strabismus syndrome,21394,Disease,36547,Disorder,2
6043,22305,363444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22307,363454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22306,363447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,21394,Disease,36547,Disorder,2
6043,22309,363478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478,Paratesticular adenocarcinoma,21394,Disease,36547,Disorder,14
6043,22308,363472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472,Tumor of testis and paratestis,36561,Category,36540,Group of disorders,3
6043,22311,363489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489,Sex cord-stromal tumor of testis,21394,Disease,36547,Disorder,23
6043,22310,363483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483,Testicular teratoma,21394,Disease,36547,Disorder,2
6043,22212,357175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22220,357329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329,Combined immunodeficiency due to IL21R deficiency,21394,Disease,36547,Disorder,2
6043,22222,357332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22219,357237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237,Severe combined immunodeficiency due to CARD11 deficiency,21394,Disease,36547,Disorder,2
6043,22226,357502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502,Idiopathic nephrotic syndrome,21436,Clinical group,36540,Group of disorders,1
6043,22190,356978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978,"D,L-2-hydroxyglutaric aciduria",21394,Disease,36547,Disorder,2
6043,22188,356947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356947,3q26q27 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22189,356961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961,SLC35A2-CDG,21394,Disease,36547,Disorder,2
6043,22195,357008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008,Hemolytic uremic syndrome with DGKE deficiency,21394,Disease,36547,Disorder,2
6043,22194,357001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001,19p13.13 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22193,356996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996,ANK3-related intellectual disability-sleep disturbance syndrome,21394,Disease,36547,Disorder,2
6043,22199,357043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043,Amyotrophic lateral sclerosis type 4,21394,Disease,36547,Disorder,2
6043,22198,357034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034,Non-hereditary retinoblastoma,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22197,357027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027,Hereditary retinoblastoma,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22207,357158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,21394,Disease,36547,Disorder,2
6043,22206,357154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154,Oral submucous fibrosis,21394,Disease,36547,Disorder,1
6043,22093,352654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,21394,Disease,36547,Disorder,2
6043,22095,352662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,21394,Disease,36547,Disorder,2
6043,22094,352657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657,Hereditary benign intraepithelial dyskeratosis,21394,Disease,36547,Disorder,1
6043,22089,352641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,21394,Disease,36547,Disorder,2
6043,22088,352636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636,Phalangeal microgeodic syndrome,21394,Disease,36547,Disorder,2
6043,22091,352649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649,Brain dopamine-serotonin vesicular transport disease,21394,Disease,36547,Disorder,2
6043,22084,352596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596,Progressive myoclonic epilepsy with dystonia,21394,Disease,36547,Disorder,2
6043,22087,352629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629,16q24.1 microdeletion syndrome,21394,Disease,36547,Disorder,2
6043,22081,352577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577,Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,21394,Disease,36547,Disorder,2
6043,22083,352587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,21394,Disease,36547,Disorder,2
6043,22082,352582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582,Familial infantile myoclonic epilepsy,21394,Disease,36547,Disorder,2
6043,22109,352731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731,Oculocutaneous albinism type 1,21394,Disease,36547,Disorder,1
6043,22110,352734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734,Minimal pigment oculocutaneous albinism type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22111,352737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737,Temperature-sensitive oculocutaneous albinism type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22104,352709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709,CLN13 disease,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22105,352712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,21394,Disease,36547,Disorder,2
6043,22106,352718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718,Progressive retinal dystrophy due to retinol transport defect,21394,Disease,36547,Disorder,2
6043,22107,352723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723,Attenuated Chédiak-Higashi syndrome,21394,Disease,36547,Disorder,2
6043,22096,352665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22097,352670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,21394,Disease,36547,Disorder,2
6043,22098,352675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675,X-linked Charcot-Marie-Tooth disease type 6,21394,Disease,36547,Disorder,2
6043,22099,352682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682,Cobblestone lissencephaly without muscular or ocular involvement,21394,Disease,36547,Disorder,2
6043,22126,353253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253,Burning mouth syndrome,21394,Disease,36547,Disorder,2
6043,22120,353220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220,Familial primary localized cutaneous amyloidosis,21394,Disease,36547,Disorder,1
6043,22117,352763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763,Scleredema,21394,Disease,36547,Disorder,1
6043,22113,352745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745,Oculocutaneous albinism type 7,21394,Disease,36547,Disorder,2
6043,22112,352740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352740,Ocular albinism with congenital sensorineural deafness,21394,Disease,36547,Disorder,2
6043,22139,353334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334,Congenital retinal arteriovenous communication,21415,Morphological anomaly,36547,Disorder,1
6043,22136,353320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320,"Pyruvate carboxylase deficiency, benign type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,22137,353327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327,Congenital myasthenic syndromes with glycosylation defect,21443,Etiological subtype,36554,Subtype of disorder,1
6043,22134,353308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308,"Pyruvate carboxylase deficiency, infantile type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,22135,353314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314,"Pyruvate carboxylase deficiency, severe neonatal type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,22133,353298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298,Roifman syndrome,21394,Disease,36547,Disorder,2
6043,22129,353284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22058,352403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403,Spectrin-associated autosomal recessive cerebellar ataxia,21394,Disease,36547,Disorder,2
6043,22057,352333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,21394,Disease,36547,Disorder,2
6043,22056,352328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328,MEGDEL syndrome,21394,Disease,36547,Disorder,2
6043,22063,352447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,21394,Disease,36547,Disorder,2
6043,22075,352530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,22078,352563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,21394,Disease,36547,Disorder,2
6043,22076,352540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540,Oncogenic osteomalacia,21394,Disease,36547,Disorder,2
6043,22066,352479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479,ISPD-related  limb-girdle muscular dystrophy R20,21394,Disease,36547,Disorder,2
6043,22065,352470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470,DNA2-related mitochondrial DNA deletion syndrome,21394,Disease,36547,Disorder,2
6043,22069,352490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490,Autism spectrum disorder due to AUTS2 deficiency,21394,Disease,36547,Disorder,2
6043,20909,294422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422,Chronic intestinal failure,21422,Clinical syndrome,36547,Disorder,1
6043,20904,294049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294049,Reunion Island Larsen-like syndrome,21394,Disease,36547,Disorder,2
6043,20900,293987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,21394,Disease,36547,Disorder,2
6043,20901,294016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016,Microcephaly-capillary malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20902,294023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023,Neonatal inflammatory skin and bowel disease,21394,Disease,36547,Disorder,2
6043,20903,294026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,21401,Malformation syndrome,36547,Disorder,2
6043,20896,293964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,21394,Disease,36547,Disorder,2
6043,20897,293967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20898,293978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,21394,Disease,36547,Disorder,2
6043,20895,293958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20894,293955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,21394,Disease,36547,Disorder,2
6043,20893,293948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948,1p21.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20892,293939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939,Distal Xq28 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20891,293936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936,EDICT syndrome,21394,Disease,36547,Disorder,2
6043,20889,293925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20883,293864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20879,293843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843,3MC syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20874,293822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,21394,Disease,36547,Disorder,2
6043,20875,293825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825,Congenital dyserythropoietic anemia type IV,21394,Disease,36547,Disorder,2
6043,20872,293812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812,Fixed drug eruption,21394,Disease,36547,Disorder,1
6043,20871,293807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293807,Ketamine-induced biliary dilatation,21394,Disease,36547,Disorder,2
6043,20869,293725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",21401,Malformation syndrome,36547,Disorder,1
6043,20866,293642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642,Blepharophimosis-intellectual disability syndrome,21436,Clinical group,36540,Group of disorders,2
6043,20867,293707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707,"Blepharophimosis-intellectual disability syndrome, MKB type",21401,Malformation syndrome,36547,Disorder,1
6043,20937,294975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975,Congenital absence of upper arm and forearm with hand present,21415,Morphological anomaly,36547,Disorder,2
6043,20931,294963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963,Popliteal pterygium syndrome,21436,Clinical group,36540,Group of disorders,1
6043,20935,294971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971,Tetra-amelia,21415,Morphological anomaly,36547,Disorder,1
6043,20768,289863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863,Atypical glycine encephalopathy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20771,289877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877,Transient hyperammonemia of the newborn,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,20777,289916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20766,289857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857,Neonatal glycine encephalopathy,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20767,289860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860,Infantile glycine encephalopathy,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20741,289560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560,Mitochondrial membrane protein-associated neurodegeneration,21394,Disease,36547,Disorder,1
6043,20740,289553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553,Dysmorphism-conductive hearing loss-heart defect syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20739,289548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,21394,Disease,36547,Disorder,1
6043,20737,289539,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539,BAP1-related tumor predisposition syndrome,21394,Disease,36547,Disorder,1
6043,20749,289601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601,Hereditary arterial and articular multiple calcification syndrome,21394,Disease,36547,Disorder,2
6043,20746,289586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586,Exfoliative ichthyosis,21394,Disease,36547,Disorder,1
6043,20854,293355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355,Methylmalonic acidemia without homocystinuria,21436,Clinical group,36540,Group of disorders,1
6043,20855,293375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375,Grayson-Wilbrandt corneal dystrophy,21394,Disease,36547,Disorder,2
6043,20856,293381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381,Epithelial recurrent erosion dystrophy,21394,Disease,36547,Disorder,2
6043,20857,293462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462,Pre-Descemet corneal dystrophy,21394,Disease,36547,Disorder,2
6043,20862,293603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603,Congenital hereditary endothelial dystrophy type II,21394,Disease,36547,Disorder,1
6043,20863,293621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621,X-linked endothelial corneal dystrophy,21394,Disease,36547,Disorder,2
6043,5536,811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811,Shwachman-Diamond syndrome,21394,Disease,36547,Disorder,7
6043,20839,293168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168,Infantile-onset ascending hereditary spastic paralysis,21394,Disease,36547,Disorder,2
6043,20838,293165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,21394,Disease,36547,Disorder,2
6043,5543,428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428,Autosomal dominant hypocalcemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20841,293181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181,Malignant migrating focal seizures of infancy,21394,Disease,36547,Disorder,4
6043,5544,2298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298,Insulin-resistance syndrome type B,21394,Disease,36547,Disorder,1
6043,5545,2207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207,Familial primary hyperparathyroidism,21436,Clinical group,36540,Group of disorders,1
6043,20840,293173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173,Acute generalized exanthematous pustulosis,21394,Disease,36547,Disorder,3
6043,20843,293199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199,Pleomorphic rhabdomyosarcoma,21450,Clinical subtype,36554,Subtype of disorder,2
6043,5546,393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393,"46,XX testicular disorder of sex development",21401,Malformation syndrome,36547,Disorder,1
6043,20844,293202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202,Epithelioid sarcoma,21394,Disease,36547,Disorder,3
6043,20847,293284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20846,293208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293208,Celiac artery compression syndrome,21394,Disease,36547,Disorder,1
6043,5522,2459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459,Mansonelliasis,21394,Disease,36547,Disorder,2
6043,5521,2404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2404,Loiasis,21394,Disease,36547,Disorder,2
6043,5520,2394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394,Pyruvate dehydrogenase E3 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,5527,2356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356,Arachnoid cyst,21415,Morphological anomaly,36547,Disorder,1
6043,5525,829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829,Adult-onset Still disease,21394,Disease,36547,Disorder,8
6043,5529,1929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929,Rasmussen subacute encephalitis,21394,Disease,36547,Disorder,2
6043,5528,1183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183,Opsoclonus-myoclonus syndrome,21394,Disease,36547,Disorder,3
6043,5534,2686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686,Cyclic neutropenia,21394,Disease,36547,Disorder,1
6043,5533,890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890,Hepatic veno-occlusive disease,21394,Disease,36547,Disorder,1
6043,5532,176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176,Non-rhizomelic chondrodysplasia punctata,21436,Clinical group,36540,Group of disorders,1
6043,5518,231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231,Dracunculiasis,21394,Disease,36547,Disorder,2
6043,5519,2035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2035,Lymphatic filariasis,21394,Disease,36547,Disorder,2
6043,20612,284448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448,CLIPPERS,21394,Disease,36547,Disorder,2
6043,20613,284454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454,Acute zonal occult outer retinopathy,21394,Disease,36547,Disorder,2
6043,20614,284460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460,Acute annular outer retinopathy,21394,Disease,36547,Disorder,2
6043,20609,284417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",21443,Etiological subtype,36554,Subtype of disorder,1
6043,20610,284426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20611,284435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20631,284984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984,Aneurysm-osteoarthritis syndrome,21394,Disease,36547,Disorder,2
6043,20630,284979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979,Neonatal Marfan syndrome,21394,Disease,36547,Disorder,1
6043,20715,289365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365,Familial vesicoureteral reflux,21401,Malformation syndrome,36547,Disorder,1
6043,20712,289347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347,Infective dermatitis associated with HTLV-1,21394,Disease,36547,Disorder,1
6043,20713,289356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356,Primary non-gestational choriocarcinoma of ovary,21394,Disease,36547,Disorder,1
6043,20718,289377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377,Early-onset myopathy with fatal cardiomyopathy,21394,Disease,36547,Disorder,1
6043,20719,289380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380,Myosclerosis,21394,Disease,36547,Disorder,1
6043,20707,289290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,21394,Disease,36547,Disorder,1
6043,20705,289266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,21394,Disease,36547,Disorder,1
6043,20711,289326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326,Tropical spastic paraparesis,21394,Disease,36547,Disorder,1
6043,20709,289307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,21394,Disease,36547,Disorder,1
6043,20731,289504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504,Combined malonic and methylmalonic acidemia,21394,Disease,36547,Disorder,2
6043,20730,289499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499,Congenital cataract microcornea with corneal opacity,21401,Malformation syndrome,36547,Disorder,1
6043,20728,289494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494,4H leukodystrophy,21394,Disease,36547,Disorder,2
6043,20734,289522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522,Microtriplication 11q24.1,21401,Malformation syndrome,36547,Disorder,2
6043,20733,289513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513,12q15q21.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20723,289465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465,Isolated congenital adermatoglyphia,21394,Disease,36547,Disorder,1
6043,20721,289390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390,Primary Sjögren syndrome,21394,Disease,36547,Disorder,14
6043,20720,289385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385,Malignancy diagnosed during pregnancy,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,20726,289483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483,Intellectual disability-alacrima-achalasia syndrome,21394,Disease,36547,Disorder,1
6043,20725,289478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478,Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,21394,Disease,36547,Disorder,2
6043,20703,289176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176,Autosomal recessive hypophosphatemic rickets,21394,Disease,36547,Disorder,1
6043,20702,289157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157,Hypocalcemic vitamin D-dependent rickets,21394,Disease,36547,Disorder,1
6043,20515,280898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280898,Panuveitis,36561,Category,36540,Group of disorders,1
6043,20514,280892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280892,Posterior uveitis,36561,Category,36540,Group of disorders,1
6043,20513,280886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280886,Anterior uveitis,36561,Category,36540,Group of disorders,2
6043,20527,281103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103,Keratinopathic ichthyosis,21436,Clinical group,36540,Group of disorders,1
6043,20526,281097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097,Autosomal recessive congenital ichthyosis,21436,Clinical group,36540,Group of disorders,4
6043,20525,281090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090,Syndromic recessive X-linked ichthyosis,21394,Disease,36547,Disorder,1
6043,20524,281085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085,Inherited ichthyosis syndromic form,36561,Category,36540,Group of disorders,1
6043,20523,281082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082,Inherited non-syndromic ichthyosis,36561,Category,36540,Group of disorders,1
6043,20532,281190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190,Congenital reticular ichthyosiform erythroderma,21394,Disease,36547,Disorder,2
6043,20533,281201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,21394,Disease,36547,Disorder,1
6043,20530,281139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139,Annular epidermolytic ichthyosis,21394,Disease,36547,Disorder,2
6043,20528,281122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122,Self-improving collodion baby,21394,Disease,36547,Disorder,2
6043,20529,281127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127,Acral self-healing collodion baby,21394,Disease,36547,Disorder,2
6043,20484,280628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628,Familial progressive hyper- and hypopigmentation,21394,Disease,36547,Disorder,2
6043,20486,280633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633,Multiple congenital anomalies-hypotonia-seizures syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20481,280615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615,Hemoglobinopathy Toms River,21394,Disease,36547,Disorder,2
6043,20480,280598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598,Hereditary sensorimotor neuropathy with hyperelastic skin,21394,Disease,36547,Disorder,2
6043,20482,280620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620,Progressive myoclonic epilepsy type 6,21394,Disease,36547,Disorder,2
6043,20493,280663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280663,Hermansky-Pudlak syndrome type 9,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20495,280671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671,Megaconial congenital muscular dystrophy,21394,Disease,36547,Disorder,2
6043,20488,280640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640,Occipital pachygyria and polymicrogyria,21401,Malformation syndrome,36547,Disorder,2
6043,20491,280654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654,Autosomal recessive nail dysplasia,21394,Disease,36547,Disorder,2
6043,20490,280651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280651,Acrodysostosis with multiple hormone resistance,21394,Disease,36547,Disorder,2
6043,20500,280779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779,Cutaneous collagenous vasculopathy,21394,Disease,36547,Disorder,2
6043,20501,280785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785,Bullous diffuse cutaneous mastocytosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20502,280794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20497,280679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,21394,Disease,36547,Disorder,2
6043,20498,280763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763,Severe intellectual disability and progressive spastic paraplegia,21394,Disease,36547,Disorder,2
6043,20499,280774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774,Generalized essential telangiectasia,21394,Disease,36547,Disorder,1
6043,20578,284149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149,Craniosynostosis-dental anomalies,21401,Malformation syndrome,36547,Disorder,1
6043,20576,284139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139,"Larsen-like syndrome, B3GAT3 type",21401,Malformation syndrome,36547,Disorder,2
6043,20583,284180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180,Xp22.13p22.2 duplication syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,20582,284169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,21450,Clinical subtype,36554,Subtype of disorder,2
6043,20581,284160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160,8q21.11 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,20587,284247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247,Familial retinal arterial macroaneurysm,21401,Malformation syndrome,36547,Disorder,1
6043,20585,284232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,21394,Disease,36547,Disorder,1
6043,20584,284227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227,TEMPI syndrome,21422,Clinical syndrome,36547,Disorder,2
6043,20590,284271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,21394,Disease,36547,Disorder,1
6043,20589,284264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284264,IgG4-related disease,21436,Clinical group,36540,Group of disorders,1
6043,20595,284324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,21394,Disease,36547,Disorder,1
6043,20592,284282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,21394,Disease,36547,Disorder,1
6043,20593,284289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289,Adult-onset autosomal recessive cerebellar ataxia,21394,Disease,36547,Disorder,2
6043,20598,284343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343,Pleuropulmonary blastoma familial tumor susceptibility syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,20596,284332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,21394,Disease,36547,Disorder,1
6043,20597,284339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339,Pontocerebellar hypoplasia type 7,21401,Malformation syndrome,36547,Disorder,2
6043,20603,284388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388,Reversible cerebral vasoconstriction syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,20604,284395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395,Well-differentiated fetal adenocarcinoma of the lung,21394,Disease,36547,Disorder,1
6043,20605,284400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400,Small cell carcinoma of the bladder,21394,Disease,36547,Disorder,3
6043,20556,282166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166,Inherited Creutzfeldt-Jakob disease,21394,Disease,36547,Disorder,1
6043,21405,309854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,21394,Disease,36547,Disorder,2
6043,21471,314029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029,High bone mass osteogenesis imperfecta,21394,Disease,36547,Disorder,2
6043,21470,314022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022,Gastric adenocarcinoma and proximal polyposis of the stomach,21394,Disease,36547,Disorder,2
6043,21468,314017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017,Idiopathic linear interstitial keratitis,21394,Disease,36547,Disorder,1
6043,21467,314002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21466,313947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947,2q23.1 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21465,313936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936,PENS syndrome,21394,Disease,36547,Disorder,2
6043,21464,313920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920,Epstein-Barr virus-associated gastric carcinoma,21394,Disease,36547,Disorder,2
6043,21462,313906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906,Congenital pancreatic cyst,21415,Morphological anomaly,36547,Disorder,2
6043,21461,313892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892,Developmental and speech delay due to SOX5 deficiency,21394,Disease,36547,Disorder,2
6043,21460,313884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884,12p12.1 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21459,313855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855,FGFR2-related bent bone dysplasia,21394,Disease,36547,Disorder,2
6043,21458,313850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850,Infantile cerebellar-retinal degeneration,21394,Disease,36547,Disorder,2
6043,21457,313846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,21394,Disease,36547,Disorder,2
6043,21456,313838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838,Coats plus syndrome,21394,Disease,36547,Disorder,1
6043,21452,313800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800,Optic nerve edema-splenomegaly syndrome,21394,Disease,36547,Disorder,2
6043,21453,313808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808,Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,21394,Disease,36547,Disorder,2
6043,21450,313781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781,20p13 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21451,313795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795,Jawad syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21449,313772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,21501,314603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603,Autosomal recessive spastic ataxia with leukoencephalopathy,21394,Disease,36547,Disorder,2
6043,21500,314597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597,Chudley-McCullough syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21502,314613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613,Growing teratoma syndrome,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,21497,314575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21496,314572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,21394,Disease,36547,Disorder,2
6043,21499,314588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588,Distal tetrasomy 15q,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21498,314585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585,15q overgrowth syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21492,314485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485,Young adult-onset distal hereditary motor neuropathy,21394,Disease,36547,Disorder,2
6043,21495,314566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566,Primary progressive apraxia of speech,21394,Disease,36547,Disorder,2
6043,21494,314555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555,Craniofacial dysplasia-osteopenia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21489,314466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466,Atypical Meigs syndrome,21422,Clinical syndrome,36547,Disorder,2
6043,21488,314459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459,Pseudo-Meigs syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,21491,314478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478,Ovarian fibrothecoma,21394,Disease,36547,Disorder,1
6043,21490,314473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473,Ovarian fibroma,21394,Disease,36547,Disorder,1
6043,21484,314422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422,Ameloblastic carcinoma,21394,Disease,36547,Disorder,2
6043,21486,314432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432,Spigelian hernia-cryptorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21487,314451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451,Meigs syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,21480,314394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,21394,Disease,36547,Disorder,2
6043,21481,314399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399,Autosomal dominant aplasia and myelodysplasia,21394,Disease,36547,Disorder,2
6043,21482,314404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,21394,Disease,36547,Disorder,2
6043,21483,314419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419,Ameloblastoma,21394,Disease,36547,Disorder,1
6043,21476,314373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,21394,Disease,36547,Disorder,2
6043,21477,314376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,21394,Disease,36547,Disorder,2
6043,21478,314381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381,Hereditary sensory and autonomic neuropathy type 6,21394,Disease,36547,Disorder,2
6043,21479,314389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389,Xq12-q13.3 duplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21472,314034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034,7p22.1 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21474,314041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21475,314051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,21394,Disease,36547,Disorder,2
6043,21249,306674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674,Kufor-Rakeb syndrome,21394,Disease,36547,Disorder,2
6043,21248,306669,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669,Hemiparkinsonism-hemiatrophy syndrome,21394,Disease,36547,Disorder,2
6043,21262,306741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741,Hemidystonia-hemiatrophy syndrome,21394,Disease,36547,Disorder,2
6043,21261,306734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734,"Primary dystonia, DYT21 type",21394,Disease,36547,Disorder,2
6043,21260,306731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731,Sydenham chorea,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,21301,308166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166,Erythrokeratoderma variabilis progressiva,21436,Clinical group,36540,Group of disorders,1
6043,21306,308386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,21443,Etiological subtype,36554,Subtype of disorder,1
6043,21310,308410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,21394,Disease,36547,Disorder,2
6043,21311,308425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,21394,Disease,36547,Disorder,2
6043,21283,307766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766,Curly hair-acral keratoderma-caries syndrome,21394,Disease,36547,Disorder,2
6043,21289,307936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,21394,Disease,36547,Disorder,2
6043,21342,309111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111,Combined pancreatic lipase-colipase deficiency,21394,Disease,36547,Disorder,2
6043,21341,309108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108,Pancreatic colipase deficiency,21394,Disease,36547,Disorder,2
6043,21338,309025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025,Mevalonate kinase deficiency,21436,Clinical group,36540,Group of disorders,2
6043,21336,309015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015,Familial lipoprotein lipase deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21337,309020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020,Familial apolipoprotein C-II deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,6023,178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178,Chordoma,21394,Disease,36547,Disorder,1
6043,6020,2637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637,Microcephalic osteodysplastic primordial dwarfism type II,21401,Malformation syndrome,36547,Disorder,2
6043,6021,592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592,Macrophagic myofasciitis,21394,Disease,36547,Disorder,1
6043,21321,308552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",21450,Clinical subtype,36554,Subtype of disorder,3
6043,21364,309271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271,"Metachromatic leukodystrophy, adult form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21360,309246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246,"GM2 gangliosidosis, AB variant",21394,Disease,36547,Disorder,2
6043,21362,309256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256,"Metachromatic leukodystrophy, late infantile form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21363,309263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263,"Metachromatic leukodystrophy, juvenile form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21372,309324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324,"Free sialic acid storage disease, infantile form",21450,Clinical subtype,36554,Subtype of disorder,2
6043,21374,309334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334,Salla disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21368,309294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294,Sialidosis,21436,Clinical group,36540,Group of disorders,6
6043,21369,309297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297,Mucopolysaccharidosis type 4A,21450,Clinical subtype,36554,Subtype of disorder,10
6043,21351,309147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147,Hyper-beta-alaninemia,21394,Disease,36547,Disorder,2
6043,21352,309152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152,GM2 gangliosidosis,21436,Clinical group,36540,Group of disorders,2
6043,21128,300547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547,Autosomal recessive infantile hypercalcemia,21394,Disease,36547,Disorder,2
6043,21129,300552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552,Follicular cholangitis and pancreatitis,21394,Disease,36547,Disorder,2
6043,21130,300557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557,Carcinoma of the ampulla of Vater,21394,Disease,36547,Disorder,3
6043,21131,300564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564,Combined pulmonary fibrosis-emphysema syndrome,21394,Disease,36547,Disorder,1
6043,21132,300570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,21394,Disease,36547,Disorder,2
6043,21133,300573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573,Polymicrogyria due to TUBB2B mutation,21401,Malformation syndrome,36547,Disorder,2
6043,21134,300576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576,Oligodontia-cancer predisposition syndrome,21394,Disease,36547,Disorder,2
6043,21120,300496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,21121,300501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21122,300504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504,Onychocytic matricoma,21394,Disease,36547,Disorder,2
6043,21123,300512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512,Onychomatricoma,21394,Disease,36547,Disorder,2
6043,21125,300525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525,Pseudohypoaldosteronism type 2D,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21126,300530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530,Pseudohypoaldosteronism type 2E,21443,Etiological subtype,36554,Subtype of disorder,2
6043,21127,300536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536,DDOST-CDG,21394,Disease,36547,Disorder,2
6043,21147,300865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865,Primary cutaneous anaplastic large cell lymphoma,21394,Disease,36547,Disorder,1
6043,21146,300857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857,T-cell/histiocyte rich large B cell lymphoma,21394,Disease,36547,Disorder,1
6043,21149,300878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878,Hairy cell leukemia variant,21394,Disease,36547,Disorder,2
6043,21151,300895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895,ALK-positive anaplastic large cell lymphoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,21137,300605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605,Juvenile amyotrophic lateral sclerosis,21394,Disease,36547,Disorder,1
6043,21139,300755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300755,Laminopathy with striated muscle involvement,36561,Category,36540,Group of disorders,1
6043,21138,300751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,21394,Disease,36547,Disorder,1
6043,21141,300763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300763,Laminopathy with lipodystrophy,36561,Category,36540,Group of disorders,1
6043,21140,300758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300758,Laminopathy with peripheral neuropathy,36561,Category,36540,Group of disorders,1
6043,21143,300842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842,Indolent B-cell non-Hodgkin lymphoma,36561,Category,36540,Group of disorders,1
6043,21142,300766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300766,Laminopathy with premature aging,36561,Category,36540,Group of disorders,1
6043,21152,300903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903,ALK-negative anaplastic large cell lymphoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,21153,300912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912,Marginal zone lymphoma,21436,Clinical group,36540,Group of disorders,3
6043,21212,306431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,21394,Disease,36547,Disorder,1
6043,21230,306550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550,FADD-related immunodeficiency,21394,Disease,36547,Disorder,2
6043,21231,306553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553,Myospherulosis,21394,Disease,36547,Disorder,1
6043,21228,306542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21229,306547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21226,306530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,21415,Morphological anomaly,36547,Disorder,2
6043,21225,306527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527,Isolated hereditary congenital facial paralysis,21415,Morphological anomaly,36547,Disorder,2
6043,21222,306516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,21436,Clinical group,36540,Group of disorders,2
6043,21221,306511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511,Autosomal recessive spastic paraplegia type 48,21394,Disease,36547,Disorder,2
6043,21218,306498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498,PTEN hamartoma tumor syndrome,21436,Clinical group,36540,Group of disorders,1
6043,21219,306504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504,Junctional epidermolysis bullosa with respiratory and renal involvement,21394,Disease,36547,Disorder,2
6043,21243,306644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644,Complication after organ transplantation,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,21238,306597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306597,X-linked Opitz G/BBB syndrome,21443,Etiological subtype,36554,Subtype of disorder,1
6043,21236,306577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577,Sodium channelopathy-related small fiber neuropathy,21394,Disease,36547,Disorder,2
6043,21232,306558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,21394,Disease,36547,Disorder,2
6043,21080,298644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644,Disorder of thiamine metabolism and transport,36561,Category,36540,Group of disorders,1
6043,21100,300179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,21110,300319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319,Charcot-Marie-Tooth disease type 2P,21394,Disease,36547,Disorder,2
6043,21111,300324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324,Persistent polyclonal B-cell lymphocytosis,21394,Disease,36547,Disorder,2
6043,21109,300313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313,Congenital cataract-hearing loss-severe developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,21106,300298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298,Severe congenital hypochromic anemia with ringed sideroblasts,21394,Disease,36547,Disorder,2
6043,21107,300305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305,11p15.4 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,21104,300284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,21394,Disease,36547,Disorder,2
6043,21105,300293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293,Transient infantile hypertriglyceridemia and hepatosteatosis,21394,Disease,36547,Disorder,2
6043,21118,300385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385,Pituitary carcinoma,21394,Disease,36547,Disorder,26
6043,21119,300493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493,Sagliker syndrome,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,2
6043,21116,300373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373,X-linked acrogigantism,21394,Disease,36547,Disorder,2
6043,21117,300382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,21394,Disease,36547,Disorder,2
6043,21114,300345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345,Autosomal systemic lupus erythematosus,21394,Disease,36547,Disorder,2
6043,21115,300359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359,PLCG2-associated antibody deficiency and immune dysregulation,21394,Disease,36547,Disorder,2
6043,21112,300333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333,Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome,21394,Disease,36547,Disorder,2
6043,24040,464724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724,Fever-associated acute infantile liver failure syndrome,21394,Disease,36547,Disorder,2
6043,24042,464738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738,Basel-Vanagaite-Smirin-Yosef syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24049,464760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760,Familial cavitary optic disc anomaly,21415,Morphological anomaly,36547,Disorder,2
6043,24048,464756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756,Familial gastric type 1 neuroendocrine tumor,21394,Disease,36547,Disorder,2
6043,24056,465508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508,Symptomatic form of hemochromatosis type 1,21394,Disease,36547,Disorder,1
6043,24010,464282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,24011,464288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24015,464306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306,DYRK1A-related intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24019,464329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329,Kaposiform lymphangiomatosis,21394,Disease,36547,Disorder,1
6043,24018,464321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,21394,Disease,36547,Disorder,1
6043,24017,464318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318,Verrucous hemangioma,21394,Disease,36547,Disorder,1
6043,24016,464311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311,Intellectual disability syndrome due to a DYRK1A point mutation,21450,Clinical subtype,36554,Subtype of disorder,2
6043,24023,464366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366,NEK9-related lethal skeletal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,24022,464359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359,Benign metanephric tumor,21394,Disease,36547,Disorder,1
6043,24021,464343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343,Catastrophic antiphospholipid syndrome,21394,Disease,36547,Disorder,1
6043,24020,464336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336,BENTA disease,21394,Disease,36547,Disorder,2
6043,24027,464453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453,Acquired methemoglobinemia,21394,Disease,36547,Disorder,2
6043,24026,464443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443,COG6-CGD,21394,Disease,36547,Disorder,2
6043,24025,464440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440,"Primary dystonia, DYT27 type",21394,Disease,36547,Disorder,2
6043,24024,464370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370,Neonatal alloimmune neutropenia,21394,Disease,36547,Disorder,2
6043,24028,464458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464458,Paracetamol poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,2
6043,6519,639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=639,Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,21394,Disease,36547,Disorder,1
6043,6520,662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662,Yellow nail syndrome,21394,Disease,36547,Disorder,2
6043,6522,537,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537,Toxic epidermal necrolysis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,6523,793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793,SAPHO syndrome,21394,Disease,36547,Disorder,1
6043,23675,456298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298,1p35.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23678,456328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328,X-linked myotubular myopathy-abnormal genitalia syndrome,21394,Disease,36547,Disorder,2
6043,23676,456312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312,Infantile multisystem neurologic-endocrine-pancreatic disease,21394,Disease,36547,Disorder,2
6043,23677,456318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318,Hereditary sensory neuropathy-deafness-dementia syndrome,21394,Disease,36547,Disorder,2
6043,23664,454831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831,Acute radiation syndrome,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,23665,454836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836,Avian influenza,21394,Disease,36547,Disorder,3
6043,23668,454887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887,Corticobasal syndrome,21394,Disease,36547,Disorder,1
6043,23658,454723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723,Endometrioid carcinoma of ovary,21394,Disease,36547,Disorder,2
6043,23657,454718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718,Holmes-Adie syndrome,21394,Disease,36547,Disorder,2
6043,23656,454714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714,Plasma cell leukemia,21394,Disease,36547,Disorder,1
6043,23663,454821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821,Pleomorphic salivary gland adenoma,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,23661,454750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750,Isolated tracheoesophageal fistula,21415,Morphological anomaly,36547,Disorder,2
6043,23660,454745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745,Kuru,21394,Disease,36547,Disorder,2
6043,23649,453533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533,Polyendocrine-polyneuropathy syndrome,21394,Disease,36547,Disorder,2
6043,23648,453521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,21394,Disease,36547,Disorder,2
6043,23655,454710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710,Anti-p200 pemphigoid,21394,Disease,36547,Disorder,2
6043,23653,454700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700,Acquired Creutzfeldt-Jakob disease,21436,Clinical group,36540,Group of disorders,1
6043,23641,451602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602,Primary cutaneous plasmacytosis,21394,Disease,36547,Disorder,1
6043,23642,451607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607,Cutaneous pseudolymphoma,21394,Disease,36547,Disorder,2
6043,23643,451612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612,Familial congenital nasolacrimal duct obstruction,21415,Morphological anomaly,36547,Disorder,2
6043,23645,453499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23646,453504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,23647,453510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510,Congenital insensitivity to pain with severe intellectual disability,21394,Disease,36547,Disorder,2
6043,23635,450322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322,Polyclonal hyperviscosity syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,23625,449566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566,Eosinophilic angiocentric fibrosis,21394,Disease,36547,Disorder,2
6043,23624,449563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563,IgG4-related ophthalmic disease,21394,Disease,36547,Disorder,1
6043,23616,449291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291,Symptomatic form of fragile X syndrome in female carrier,21394,Disease,36547,Disorder,1
6043,23619,449400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400,IgG4-related aortitis,21394,Disease,36547,Disorder,1
6043,23618,449395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395,IgG4-related kidney disease,21394,Disease,36547,Disorder,1
6043,23623,449432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432,IgG4-related submandibular gland disease,21394,Disease,36547,Disorder,1
6043,23622,449427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427,IgG4-related pachymeningitis,21394,Disease,36547,Disorder,1
6043,23614,449280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280,Scedosporiosis,21394,Disease,36547,Disorder,2
6043,23615,449285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285,Snakebite envenomation,21394,Disease,36547,Disorder,1
6043,23612,449266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266,Pleural empyema,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,23565,448264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264,Isolated focal non-epidermolytic palmoplantar keratoderma,21394,Disease,36547,Disorder,2
6043,23564,448251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251,Progressive autosomal recessive ataxia-deafness syndrome,21394,Disease,36547,Disorder,2
6043,23567,448270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270,Ectopia cordis,21415,Morphological anomaly,36547,Disorder,2
6043,23566,448267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267,Regressive spondylometaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,23561,448010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010,CAD-CDG,21394,Disease,36547,Disorder,2
6043,23560,447997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,21394,Disease,36547,Disorder,2
6043,23563,448242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242,Autosomal recessive brachyolmia,21401,Malformation syndrome,36547,Disorder,2
6043,23562,448237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448237,Zika virus disease,21394,Disease,36547,Disorder,2
6043,23557,447977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977,Progressive scapulohumeroperoneal distal myopathy,21394,Disease,36547,Disorder,2
6043,23556,447974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23558,447980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980,19p13.3 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23553,447954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954,Combined oxidative phosphorylation defect type 25,21394,Disease,36547,Disorder,2
6043,23555,447964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,21394,Disease,36547,Disorder,2
6043,23554,447961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,21394,Disease,36547,Disorder,2
6043,23767,459033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033,Ataxia-oculomotor apraxia type 4,21394,Disease,36547,Disorder,2
6043,23769,459051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051,"Spondyloepiphyseal dysplasia, Stanescu type",21394,Disease,36547,Disorder,2
6043,23771,459061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23770,459056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056,Autosomal recessive spastic paraplegia type 75,21394,Disease,36547,Disorder,2
6043,23773,459074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23772,459070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23749,458718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718,Idiopathic spontaneous coronary artery dissection,21394,Disease,36547,Disorder,1
6043,23750,458758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758,Composite hemangioendothelioma,21394,Disease,36547,Disorder,2
6043,23751,458763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763,Retiform hemangioendothelioma,21394,Disease,36547,Disorder,2
6043,23752,458768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768,Primary intralymphatic angioendothelioma,21394,Disease,36547,Disorder,2
6043,23756,458798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798,Spinocerebellar ataxia type 41,21394,Disease,36547,Disorder,2
6043,23757,458803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803,Spinocerebellar ataxia type 42,21394,Disease,36547,Disorder,2
6043,23733,457485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23718,457265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265,Progressive myoclonic epilepsy type 9,21394,Disease,36547,Disorder,2
6043,23719,457279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23717,457260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,21394,Disease,36547,Disorder,2
6043,23714,457240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240,X-linked intellectual disability-short stature-overweight syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23726,457395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23727,457406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406,Multiple mitochondrial dysfunctions syndrome type 4,21394,Disease,36547,Disorder,2
6043,23724,457375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,21394,Disease,36547,Disorder,2
6043,23725,457378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378,Complex lethal osteochondrodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,23722,457359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23723,457365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23720,457284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23721,457351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23703,457185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,21394,Disease,36547,Disorder,2
6043,23697,457083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083,Isolated splenogonadal fusion,21415,Morphological anomaly,36547,Disorder,2
6043,23696,457077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077,TAFRO syndrome,21394,Disease,36547,Disorder,2
6043,23699,457095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095,Actinomycosis,21394,Disease,36547,Disorder,1
6043,23709,457223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,21394,Disease,36547,Disorder,2
6043,23708,457212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,21394,Disease,36547,Disorder,2
6043,23705,457193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23707,457205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,21394,Disease,36547,Disorder,2
6043,23680,456369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369,Polyglucosan body myopathy type 2,21394,Disease,36547,Disorder,2
6043,23691,457050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,21394,Disease,36547,Disorder,2
6043,7023,317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317,Erythrokeratodermia variabilis,21394,Disease,36547,Disorder,2
6043,7024,629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629,Short stature due to growth hormone qualitative anomaly,21450,Clinical subtype,36554,Subtype of disorder,2
6043,7026,248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248,Autosomal recessive hypohidrotic ectodermal dysplasia,21443,Etiological subtype,36554,Subtype of disorder,1
6043,7027,1810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810,Autosomal dominant hypohidrotic ectodermal dysplasia,21443,Etiological subtype,36554,Subtype of disorder,2
6043,7028,3437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437,Vogt-Koyanagi-Harada disease,21394,Disease,36547,Disorder,2
6043,7029,2032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032,Idiopathic pulmonary fibrosis,21394,Disease,36547,Disorder,17
6043,7030,1303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303,Bronchiolitis obliterans with obstructive pulmonary disease,21394,Disease,36547,Disorder,1
6043,7032,3348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348,Tracheobronchopathia osteochondroplastica,21394,Disease,36547,Disorder,2
6043,7033,2902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902,Idiopathic chronic eosinophilic pneumonia,21394,Disease,36547,Disorder,2
6043,7034,1302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302,Cryptogenic organizing pneumonia,21394,Disease,36547,Disorder,4
6043,7035,198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198,Occipital horn syndrome,21394,Disease,36547,Disorder,2
6043,7036,891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891,Familial exudative vitreoretinopathy,21394,Disease,36547,Disorder,1
6043,7037,225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225,Maternally-inherited diabetes and deafness,21394,Disease,36547,Disorder,1
6043,24156,466677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466677,Scorpion envenomation,21394,Disease,36547,Disorder,1
6043,24158,466688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24159,466695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695,Supratip dysplasia,21415,Morphological anomaly,36547,Disorder,2
6043,24154,466670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466670,Cyanide poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,24151,466650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650,Exercise-induced malignant hyperthermia,21394,Disease,36547,Disorder,1
6043,24185,466962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962,SMARCA4-deficient sarcoma of thorax,21394,Disease,36547,Disorder,2
6043,24183,466950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,21450,Clinical subtype,36554,Subtype of disorder,2
6043,24181,466943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24178,466926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926,Seizures-scoliosis-macrocephaly syndrome,21394,Disease,36547,Disorder,2
6043,24179,466934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,21394,Disease,36547,Disorder,2
6043,24176,466921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,21394,Disease,36547,Disorder,2
6043,24172,466806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806,Autosomal dominant thrombocytopenia with platelet secretion defect,21394,Disease,36547,Disorder,2
6043,24171,466801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466801,LIMS2-related limb-girdle muscular dystrophy,21394,Disease,36547,Disorder,2
6043,24170,466794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,24169,466791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24168,466784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,21394,Disease,36547,Disorder,2
6043,24167,466775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,21394,Disease,36547,Disorder,2
6043,24166,466768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,21394,Disease,36547,Disorder,2
6043,24162,466722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722,Autosomal recessive spastic paraplegia type 77,21394,Disease,36547,Disorder,2
6043,24161,466718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718,Martinique crinkled retinal pigment epitheliopathy,21394,Disease,36547,Disorder,2
6043,24160,466703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703,TMEM199-CDG,21394,Disease,36547,Disorder,2
6043,24074,465824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824,Fetal encasement syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,24102,466026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026,Class I glucose-6-phosphate dehydrogenase deficiency,21394,Disease,36547,Disorder,1
6043,24220,468620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620,Intellectual disability-epilepsy-extrapyramidal syndrome,21394,Disease,36547,Disorder,2
6043,24223,468631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631,Microcephalic primordial dwarfism due to RTTN deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,24201,467166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166,Tubulinopathy-associated dysgyria,21394,Disease,36547,Disorder,2
6043,24203,467176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,21394,Disease,36547,Disorder,2
6043,24224,468635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635,Cryptogenic multifocal ulcerous stenosing enteritis,21394,Disease,36547,Disorder,2
6043,24225,468641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641,Chronic enteropathy associated with SLCO2A1 gene,21394,Disease,36547,Disorder,2
6043,24230,468661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661,Autosomal recessive spastic paraplegia type 74,21394,Disease,36547,Disorder,2
6043,24231,468666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666,Isolated generalized anhidrosis with normal sweat glands,21394,Disease,36547,Disorder,2
6043,24234,468678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678,Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,21394,Disease,36547,Disorder,1
6043,24235,468684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684,CCDC115-CDG,21394,Disease,36547,Disorder,2
6043,24233,468672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672,Colobomatous macrophthalmia-microcornea syndrome,21394,Disease,36547,Disorder,2
6043,24238,468726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726,Severe primary trimethylaminuria,21394,Disease,36547,Disorder,1
6043,24236,468699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699,SLC39A8-CDG,21394,Disease,36547,Disorder,2
6043,24237,468717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717,Rhizomelic chondrodysplasia punctata type 5,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22829,401785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785,Autosomal recessive spastic paraplegia type 62,21394,Disease,36547,Disorder,2
6043,22828,401780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780,Autosomal recessive spastic paraplegia type 61,21394,Disease,36547,Disorder,2
6043,22831,401800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800,Autosomal recessive spastic paraplegia type 60,21394,Disease,36547,Disorder,2
6043,22830,401795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795,Autosomal recessive spastic paraplegia type 59,21394,Disease,36547,Disorder,2
6043,22825,401768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768,Proximal myopathy with extrapyramidal signs,21394,Disease,36547,Disorder,2
6043,22824,401764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764,Pancytopenia-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,22827,401777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777,Optic atrophy-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,22837,401830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830,Autosomal recessive spastic paraplegia type 69,21394,Disease,36547,Disorder,2
6043,22838,401835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835,Autosomal recessive spastic paraplegia type 70,21394,Disease,36547,Disorder,2
6043,22839,401840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840,Autosomal recessive spastic paraplegia type 71,21394,Disease,36547,Disorder,2
6043,22832,401805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805,Autosomal recessive spastic paraplegia type 63,21394,Disease,36547,Disorder,2
6043,22833,401810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810,Autosomal recessive spastic paraplegia type 64,21394,Disease,36547,Disorder,2
6043,22834,401815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815,Autosomal recessive spastic paraplegia type 66,21394,Disease,36547,Disorder,2
6043,22835,401820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820,Autosomal recessive spastic paraplegia type 67,21394,Disease,36547,Disorder,2
6043,22844,401866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866,Childhood-onset spasticity with hyperglycinemia,21394,Disease,36547,Disorder,2
6043,22845,401869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869,Multiple mitochondrial dysfunctions syndrome type 1,21394,Disease,36547,Disorder,2
6043,22846,401874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874,Multiple mitochondrial dysfunctions syndrome type 2,21394,Disease,36547,Disorder,2
6043,22840,401849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849,Autosomal spastic paraplegia type 72,21394,Disease,36547,Disorder,2
6043,22842,401859,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859,Lipoic acid synthetase deficiency,21394,Disease,36547,Disorder,2
6043,22843,401862,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862,Lipoyl transferase 1 deficiency,21394,Disease,36547,Disorder,2
6043,22889,402823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823,Hepatitis delta,21394,Disease,36547,Disorder,1
6043,22851,401920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920,Fibrolamellar hepatocellular carcinoma,21394,Disease,36547,Disorder,22
6043,22850,401911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911,AXIN2-related attenuated familial adenomatous polyposis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22848,401901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901,Huntington disease-like syndrome due to C9ORF72 expansions,21394,Disease,36547,Disorder,2
6043,22855,401942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942,Familial median cleft of the upper and lower lips,21401,Malformation syndrome,36547,Disorder,2
6043,22854,401935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935,14q24.1q24.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22852,401923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923,9q31.1q31.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22859,401959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22858,401953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953,Episodic ataxia with slurred speech,21394,Disease,36547,Disorder,2
6043,22857,401948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,21394,Disease,36547,Disorder,2
6043,22856,401945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945,Moyamoya disease with early-onset achalasia,21394,Disease,36547,Disorder,2
6043,22863,401986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986,1p31p32 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22862,401979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",21401,Malformation syndrome,36547,Disorder,2
6043,22861,401973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973,MEND syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22860,401964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,21394,Disease,36547,Disorder,2
6043,22866,402003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,21394,Disease,36547,Disorder,2
6043,22865,401996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996,Karyomegalic interstitial nephritis,21394,Disease,36547,Disorder,2
6043,22875,402035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035,Eosinophilic colitis,21394,Disease,36547,Disorder,2
6043,22878,402082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082,Progressive myoclonic epilepsy type 5,21394,Disease,36547,Disorder,2
6043,22879,402364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,21401,Malformation syndrome,36547,Disorder,2
6043,22876,402041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041,Autosomal recessive distal renal tubular acidosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,7521,806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806,Scott syndrome,21394,Disease,36547,Disorder,2
6043,22927,404473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473,Severe intellectual disability-progressive spastic diplegia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22924,404463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463,Multisystemic smooth muscle dysfunction syndrome,21394,Disease,36547,Disorder,2
6043,22925,404466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466,Female infertility due to zona pellucida defect,21394,Disease,36547,Disorder,2
6043,22922,404451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22923,404454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,21394,Disease,36547,Disorder,2
6043,22920,404443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443,Tall stature-intellectual disability-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22921,404448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448,ADNP syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,22918,404437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22919,404440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404440,Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,21401,Malformation syndrome,36547,Disorder,2
6043,22939,404560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560,Familial atypical multiple mole melanoma syndrome,21394,Disease,36547,Disorder,1
6043,22938,404553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553,Vasculitis due to ADA2 deficiency,21394,Disease,36547,Disorder,2
6043,22937,404546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546,DITRA,21394,Disease,36547,Disorder,2
6043,22935,404521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521,Spinal muscular atrophy with respiratory distress type 2,21394,Disease,36547,Disorder,2
6043,22932,404507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507,Chondromyxoid fibroma,21394,Disease,36547,Disorder,2
6043,22931,404499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,21394,Disease,36547,Disorder,2
6043,22930,404493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,21394,Disease,36547,Disorder,2
6043,22928,404476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23016,411527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527,Central retinal vein occlusion,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,23018,411536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536,Mild phosphoribosylpyrophosphate synthetase superactivity,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23019,411543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543,Severe phosphoribosylpyrophosphate synthetase superactivity,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23021,411593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593,Insulin autoimmune syndrome,21394,Disease,36547,Disorder,2
6043,23022,411602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602,Hereditary late-onset Parkinson disease,21394,Disease,36547,Disorder,1
6043,23023,411629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629,Infantile nephropathic cystinosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,23012,411493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493,Pontocerebellar hypoplasia type 10,21401,Malformation syndrome,36547,Disorder,2
6043,23033,411777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777,Generalized eruptive keratoacanthoma,21394,Disease,36547,Disorder,2
6043,23032,411712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712,Maternal riboflavin deficiency,21394,Disease,36547,Disorder,2
6043,23034,411788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788,Familial isolated trichomegaly,21394,Disease,36547,Disorder,2
6043,23037,411986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23039,412035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035,13q12.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23038,412022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23025,411641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641,Ocular cystinosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23024,411634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634,Juvenile nephropathic cystinosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,23029,411696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411696,Proton-pump inhibitor-responsive esophageal eosinophilia,21394,Disease,36547,Disorder,1
6043,23031,411709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709,Renal agenesis,21415,Morphological anomaly,36547,Disorder,2
6043,23030,411703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703,Pulmonary non-tuberculous mycobacterial infection,21394,Disease,36547,Disorder,1
6043,22539,371428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,21394,Disease,36547,Disorder,2
6043,22538,371364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364,Hypotonia-speech impairment-severe cognitive delay syndrome,21394,Disease,36547,Disorder,1
6043,22640,391673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673,Necrotizing enterocolitis,21394,Disease,36547,Disorder,1
6043,22641,391677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22625,391474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474,Frontorhiny,21401,Malformation syndrome,36547,Disorder,1
6043,22631,391504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504,Transient neonatal myasthenia gravis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22630,391497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497,Juvenile myasthenia gravis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,22629,391490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490,Adult-onset myasthenia gravis,21450,Clinical subtype,36554,Subtype of disorder,5
6043,22628,391487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487,Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,21394,Disease,36547,Disorder,2
6043,22635,391646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646,Feingold syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22634,391641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641,Feingold syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22639,391665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665,Homozygous familial hypercholesterolemia,21394,Disease,36547,Disorder,5
6043,22637,391655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655,Off-periods in Parkinson disease not responding to oral treatment,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,22608,391343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343,Fatal post-viral neurodegenerative disorder,21394,Disease,36547,Disorder,2
6043,22609,391348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,21394,Disease,36547,Disorder,2
6043,22610,391351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351,SURF1-related Charcot-Marie-Tooth disease type 4,21394,Disease,36547,Disorder,2
6043,22611,391366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,21394,Disease,36547,Disorder,2
6043,22612,391372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372,Intellectual disability-severe speech delay-mild dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22613,391376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,21394,Disease,36547,Disorder,2
6043,22615,391384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384,Familial episodic pain syndrome,21394,Disease,36547,Disorder,1
6043,22616,391389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389,Familial episodic pain syndrome with predominantly upper body involvement,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22617,391392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392,Familial episodic pain syndrome with predominantly lower limb involvement,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22618,391397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397,Hereditary sensory and autonomic neuropathy type 7,21394,Disease,36547,Disorder,2
6043,22619,391408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,21394,Disease,36547,Disorder,2
6043,22620,391411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411,Atypical juvenile parkinsonism,21394,Disease,36547,Disorder,2
6043,22621,391417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417,HSD10 disease,21394,Disease,36547,Disorder,2
6043,22623,391457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457,"HSD10 disease, neonatal type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,22601,391307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22603,391316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,21394,Disease,36547,Disorder,2
6043,22605,391327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327,X-linked calvarial hyperostosis,21394,Disease,36547,Disorder,2
6043,22604,391320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320,East Texas bleeding disorder,21394,Disease,36547,Disorder,2
6043,22606,391330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330,X-linked osteoporosis with fractures,21394,Disease,36547,Disorder,2
6043,22719,398063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063,Refractory celiac disease,21394,Disease,36547,Disorder,1
6043,22718,398058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058,Squamous cell carcinoma of the penis,21394,Disease,36547,Disorder,24
6043,22717,398053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053,Adenocarcinoma of the penis,21394,Disease,36547,Disorder,17
6043,22716,398043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043,Malignant tumor of penis,36561,Category,36540,Group of disorders,5
6043,22715,397973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,21394,Disease,36547,Disorder,2
6043,22714,397968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968,Charcot-Marie-Tooth disease type 2R,21394,Disease,36547,Disorder,2
6043,22713,397964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964,Combined immunodeficiency due to MALT1 deficiency,21394,Disease,36547,Disorder,2
6043,22712,397959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959,TCR-alpha-beta-positive T-cell deficiency,21394,Disease,36547,Disorder,2
6043,22711,397951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,22710,397946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946,Autosomal spastic paraplegia type 58,21394,Disease,36547,Disorder,2
6043,22709,397941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941,MAN1B1-CDG,21394,Disease,36547,Disorder,2
6043,22708,397937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937,Polyglucosan body myopathy type 1,21394,Disease,36547,Disorder,2
6043,22707,397933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,21394,Disease,36547,Disorder,2
6043,22705,397927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22704,397922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922,Ferro-cerebro-cutaneous syndrome,21394,Disease,36547,Disorder,2
6043,22702,397787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787,Severe combined immunodeficiency due to IKK2 deficiency,21394,Disease,36547,Disorder,2
6043,22700,397755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755,Periodic paralysis with transient compartment-like syndrome,21394,Disease,36547,Disorder,2
6043,22701,397758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,21394,Disease,36547,Disorder,2
6043,22698,397744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,21394,Disease,36547,Disorder,2
6043,22699,397750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750,Periodic paralysis with later-onset distal motor neuropathy,21394,Disease,36547,Disorder,2
6043,22696,397725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725,COASY protein-associated neurodegeneration,21394,Disease,36547,Disorder,2
6043,22697,397735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,21394,Disease,36547,Disorder,2
6043,22694,397709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22695,397715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,21401,Malformation syndrome,36547,Disorder,2
6043,22692,397692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692,Hereditary isolated aplastic anemia,21394,Disease,36547,Disorder,1
6043,22693,397695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397695,3q27.3 microdeletion syndrome,21394,Disease,36547,Disorder,2
6043,22690,397623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22691,397685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685,Familial hyperprolactinemia,21394,Disease,36547,Disorder,1
6043,22688,397615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615,Obesity due to CEP19 deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22689,397618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,21394,Disease,36547,Disorder,2
6043,22685,397596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596,Activated PI3K-delta syndrome,21394,Disease,36547,Disorder,2
6043,22684,397593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,21394,Disease,36547,Disorder,2
6043,22687,397612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612,Macrocephaly-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22686,397606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606,PrP systemic amyloidosis,21394,Disease,36547,Disorder,2
6043,22683,397590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590,Silver-Russell syndrome due to a point mutation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,22682,397587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397587,Deep dermatophytosis,21394,Disease,36547,Disorder,1
6043,22760,399329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329,Epiphysiolysis of the hip,21394,Disease,36547,Disorder,1
6043,22754,399180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180,Secondary non-traumatic avascular necrosis,21394,Disease,36547,Disorder,1
6043,22745,399058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058,Alpha-B crystallin-related late-onset myopathy,21394,Disease,36547,Disorder,2
6043,22744,398987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987,Malignant teratoma of ovary,21394,Disease,36547,Disorder,24
6043,22747,399086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086,Finnish upper limb-onset distal myopathy,21394,Disease,36547,Disorder,2
6043,22746,399081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081,KLHL9-related early-onset distal myopathy,21394,Disease,36547,Disorder,2
6043,22749,399103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103,Distal nebulin myopathy,21394,Disease,36547,Disorder,2
6043,22748,399096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096,Distal anoctaminopathy,21394,Disease,36547,Disorder,2
6043,22739,398934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934,Malignant epithelial tumor of ovary,36561,Category,36540,Group of disorders,1
6043,22741,398961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961,Mucinous adenocarcinoma of ovary,21394,Disease,36547,Disorder,24
6043,22740,398940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940,Malignant non-epithelial tumor of ovary,36561,Category,36540,Group of disorders,1
6043,22743,398980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398980,Primary peritoneal serous/papillary carcinoma,21394,Disease,36547,Disorder,1
6043,22742,398971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971,Clear cell adenocarcinoma of the ovary,21394,Disease,36547,Disorder,24
6043,22728,398124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124,Neonatal lupus erythematosus,21394,Disease,36547,Disorder,1
6043,22729,398127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127,Neonatal scleroderma,21394,Disease,36547,Disorder,2
6043,22730,398147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147,Persistent idiopathic facial pain,21394,Disease,36547,Disorder,4
6043,22731,398156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156,Oculoauriculofrontonasal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,22732,398166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166,Focal facial dermal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,22733,398173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173,Focal facial dermal dysplasia type II,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22734,398189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189,Focal facial dermal dysplasia type IV,21450,Clinical subtype,36554,Subtype of disorder,2
6043,22720,398069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069,MAGEL2-related Prader-Willi-like syndrome,21394,Disease,36547,Disorder,2
6043,22721,398073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073,Prader-Willi-like syndrome,21436,Clinical group,36540,Group of disorders,2
6043,22722,398079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079,SIM1-related Prader-Willi-like syndrome,21394,Disease,36547,Disorder,2
6043,22723,398088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088,Hereditary cryohydrocytosis with normal stomatin,21394,Disease,36547,Disorder,2
6043,22725,398097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097,Neonatal antiphospholipid syndrome,21394,Disease,36547,Disorder,2
6043,22726,398109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109,Neonatal autoimmune hemolytic anemia,21394,Disease,36547,Disorder,2
6043,22727,398117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117,Neonatal dermatomyositis,21394,Disease,36547,Disorder,2
6043,23306,435628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628,Keppen-Lubinsky syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23310,435660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660,LIPE-related familial partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,23309,435651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651,CIDEC-related familial partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,23308,435638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638,3p25.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23314,435804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,21394,Disease,36547,Disorder,2
6043,23318,435845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23319,435930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,21394,Disease,36547,Disorder,2
6043,23317,435819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,21394,Disease,36547,Disorder,2
6043,23322,435953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,21394,Disease,36547,Disorder,2
6043,23323,435988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988,Chronic atrial and intestinal dysrhythmia syndrome,21394,Disease,36547,Disorder,2
6043,23320,435934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934,COG2-CDG,21394,Disease,36547,Disorder,2
6043,23321,435938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23326,436141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141,Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23327,436144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,21394,Disease,36547,Disorder,2
6043,23324,435998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,21394,Disease,36547,Disorder,2
6043,23325,436003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003,Contractures-developmental delay-Pierre Robin syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23329,436159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,21394,Disease,36547,Disorder,2
6043,23328,436151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,23331,436169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169,Thrombomodulin-related bleeding disorder,21394,Disease,36547,Disorder,2
6043,23330,436166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,21394,Disease,36547,Disorder,2
6043,23333,436182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182,Microcephalic primordial dwarfism-insulin resistance syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23332,436174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,21394,Disease,36547,Disorder,2
6043,23335,436245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,23334,436242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242,Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,21394,Disease,36547,Disorder,2
6043,23338,436274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,21394,Disease,36547,Disorder,2
6043,23351,437552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,21394,Disease,36547,Disorder,2
6043,23352,437572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437572,MYH7-related late-onset scapuloperoneal muscular dystrophy,21394,Disease,36547,Disorder,2
6043,23367,438178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178,Fatty acyl-CoA reductase 1 deficiency,21394,Disease,36547,Disorder,2
6043,23366,438159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159,STAT3-related early-onset multisystem autoimmune disease,21394,Disease,36547,Disorder,2
6043,23365,438134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,21394,Disease,36547,Disorder,2
6043,23364,438117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117,Steel syndrome,21394,Disease,36547,Disorder,2
6043,23363,438114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,21394,Disease,36547,Disorder,2
6043,23361,438075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,21394,Disease,36547,Disorder,2
6043,23374,438279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279,Human infection by orthopoxvirus,21394,Disease,36547,Disorder,1
6043,23373,438274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274,GCGR-related hyperglucagonemia,21394,Disease,36547,Disorder,2
6043,23371,438266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266,Progressive encephalomyelitis with rigidity and myoclonus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23370,438216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,21443,Etiological subtype,36554,Subtype of disorder,2
6043,23369,438213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,21394,Disease,36547,Disorder,2
6043,23368,438207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207,Severe autosomal recessive macrothrombocytopenia,21394,Disease,36547,Disorder,2
6043,23383,439232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232,AApoAIV amyloidosis,21394,Disease,36547,Disorder,2
6043,23380,439212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,21394,Disease,36547,Disorder,2
6043,23381,439218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218,KCNQ2-related epileptic encephalopathy,21394,Disease,36547,Disorder,2
6043,23378,439196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196,Zinc-responsive necrolytic acral erythema,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,23376,439167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167,Placental insufficiency,21422,Clinical syndrome,36547,Disorder,1
6043,23391,439822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822,PDE4D haploinsufficiency syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23385,439254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254,ITM2B amyloidosis,21394,Disease,36547,Disorder,2
6043,23393,439854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,21394,Disease,36547,Disorder,2
6043,23395,439897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23394,439881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881,Plastic bronchitis,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,23401,440354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23412,440713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713,Isolated sedoheptulokinase deficiency,21394,Disease,36547,Disorder,2
6043,23414,440727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727,Combined hamartoma of the retina and retinal pigment epithelium,21394,Disease,36547,Disorder,2
6043,23415,440731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731,L-ferritin deficiency,21408,Biological anomaly,36547,Disorder,2
6043,23411,440706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706,Ribose-5-P isomerase deficiency,21394,Disease,36547,Disorder,2
6043,23439,443084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084,Baroreflex failure,21422,Clinical syndrome,36547,Disorder,1
6043,23437,443073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073,Charcot-Marie-Tooth disease type 2S,21394,Disease,36547,Disorder,2
6043,23427,442835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835,Undetermined early-onset epileptic encephalopathy,21394,Disease,36547,Disorder,1
6043,23424,442582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582,AH amyloidosis,21394,Disease,36547,Disorder,2
6043,23451,443197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197,X-linked erythropoietic protoporphyria,21394,Disease,36547,Disorder,2
6043,8026,3008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008,Pyruvate carboxylase deficiency,21394,Disease,36547,Disorder,2
6043,23450,443192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192,Classic stiff person syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,8027,595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595,Centronuclear myopathy,21436,Clinical group,36540,Group of disorders,1
6043,8030,298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298,Mitochondrial neurogastrointestinal encephalomyopathy,21394,Disease,36547,Disorder,1
6043,8031,396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396,Chronic hiccup,21394,Disease,36547,Disorder,1
6043,23453,443236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236,Postural orthostatic tachycardia syndrome due to NET deficiency,21394,Disease,36547,Disorder,2
6043,8028,552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552,MODY,21394,Disease,36547,Disorder,2
6043,8029,854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854,Primitive portal vein thrombosis,21422,Clinical syndrome,36547,Disorder,1
6043,23443,443098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098,Hyperostosis cranialis interna,21394,Disease,36547,Disorder,2
6043,23440,443087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",21394,Disease,36547,Disorder,2
6043,8022,130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130,Brugada syndrome,21394,Disease,36547,Disorder,2
6043,8023,277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277,Severe combined immunodeficiency due to adenosine deaminase deficiency,21394,Disease,36547,Disorder,2
6043,23446,443162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162,NDE1-related microhydranencephaly,21401,Malformation syndrome,36547,Disorder,2
6043,23467,443804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804,Focal stiff limb syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,23468,443811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811,PGM3-CDG,21394,Disease,36547,Disorder,2
6043,23470,443950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,21394,Disease,36547,Disorder,2
6043,23471,443988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988,Ventriculomegaly-cystic kidney disease,21394,Disease,36547,Disorder,2
6043,23481,444092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092,Autoimmune interstitial lung disease-arthritis syndrome,21394,Disease,36547,Disorder,2
6043,23482,444099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099,Autosomal dominant spastic paraplegia type 73,21394,Disease,36547,Disorder,2
6043,23486,444138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,21394,Disease,36547,Disorder,2
6043,23473,444002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002,11q22.2q22.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23472,443995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995,Mandibulofacial dysostosis with alopecia,21401,Malformation syndrome,36547,Disorder,2
6043,23475,444048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048,"46,XX ovarian dysgenesis-short stature syndrome",21394,Disease,36547,Disorder,2
6043,23474,444013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013,Combined oxidative phosphorylation defect type 23,21394,Disease,36547,Disorder,2
6043,23477,444069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23476,444051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051,20q11.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23479,444077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23478,444072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072,Cerebellar-facial-dental syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23490,444463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,21394,Disease,36547,Disorder,2
6043,23491,444490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490,Familial chylomicronemia syndrome,21394,Disease,36547,Disorder,2
6043,23489,444458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458,Combined oxidative phosphorylation defect type 24,21394,Disease,36547,Disorder,2
6043,23519,445110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110,Limb-girdle muscular dystrophy due to POMK deficiency,21394,Disease,36547,Disorder,2
6043,23517,445062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,21394,Disease,36547,Disorder,2
6043,23516,445038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038,3-methylglutaconic aciduria type 7,21394,Disease,36547,Disorder,2
6043,23515,445018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018,Combined immunodeficiency due to LRBA deficiency,21394,Disease,36547,Disorder,2
6043,23533,447731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731,NIK deficiency,21394,Disease,36547,Disorder,2
6043,23534,447737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737,DOCK2 deficiency,21394,Disease,36547,Disorder,2
6043,23549,447881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881,Idiopathic dropped head syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,23551,447896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896,Tremor-ataxia-central hypomyelination syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,23550,447893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,23544,447788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788,Cerebral visual impairment,21422,Clinical syndrome,36547,Disorder,1
6043,23546,447795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795,Lipoyl transferase 2 deficiency,21408,Biological anomaly,36547,Disorder,1
6043,23543,447784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784,Mitochondrial pyruvate carrier deficiency,21394,Disease,36547,Disorder,2
6043,23537,447757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757,Autosomal dominant spastic paraplegia type 9B,21394,Disease,36547,Disorder,2
6043,23536,447753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753,Autosomal dominant spastic paraplegia type 9A,21394,Disease,36547,Disorder,2
6043,23538,447760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760,Autosomal recessive spastic paraplegia type 9B,21394,Disease,36547,Disorder,2
6043,23041,412066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,21394,Disease,36547,Disorder,2
6043,23040,412057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,21394,Disease,36547,Disorder,2
6043,23043,412181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181,Epidermolysis bullosa simplex due to BP230 deficiency,21394,Disease,36547,Disorder,2
6043,23042,412069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23044,412189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,21394,Disease,36547,Disorder,2
6043,23047,412217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217,Dystonia-aphonia syndrome,21394,Disease,36547,Disorder,2
6043,23090,418959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959,Squamous cell carcinoma of the stomach,21394,Disease,36547,Disorder,26
6043,23088,418945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945,"Carcinoma of esophagus, salivary gland type",21394,Disease,36547,Disorder,18
6043,23089,418951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951,Undifferentiated carcinoma of esophagus,21394,Disease,36547,Disorder,24
6043,23101,420179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179,Malan overgrowth syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23081,415286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286,Bilirubin encephalopathy,21436,Clinical group,36540,Group of disorders,1
6043,23125,420789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,21394,Disease,36547,Disorder,2
6043,23126,420794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794,Cono-spondylar dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,23120,420702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,21394,Disease,36547,Disorder,2
6043,23121,420728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728,Combined oxidative phosphorylation defect type 20,21394,Disease,36547,Disorder,2
6043,23122,420733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733,Combined oxidative phosphorylation defect type 21,21394,Disease,36547,Disorder,2
6043,23123,420741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741,RIDDLE syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23109,420492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492,"Adult-onset cervical dystonia, DYT23 type",21394,Disease,36547,Disorder,2
6043,23104,420402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402,Semicircular canal dehiscence syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,23106,420429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",21450,Clinical subtype,36554,Subtype of disorder,1
6043,23116,420584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23119,420699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,21394,Disease,36547,Disorder,2
6043,23118,420686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686,Woolly hair-palmoplantar keratoderma syndrome,21394,Disease,36547,Disorder,2
6043,23113,420561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561,Temple-Baraitser syndrome,21394,Disease,36547,Disorder,2
6043,23115,420573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573,Severe combined immunodeficiency due to CTPS1 deficiency,21394,Disease,36547,Disorder,2
6043,23114,420566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566,Bleeding disorder due to CalDAG-GEFI deficiency,21394,Disease,36547,Disorder,2
6043,23158,423461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461,Mucolipidosis type III alpha/beta,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23159,423470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470,Mucolipidosis type III gamma,21450,Clinical subtype,36554,Subtype of disorder,1
6043,23157,423454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,21394,Disease,36547,Disorder,2
6043,23154,423384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,21394,Disease,36547,Disorder,2
6043,23152,423296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296,Spinocerebellar ataxia type 38,21394,Disease,36547,Disorder,2
6043,23153,423306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23160,423479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,21394,Disease,36547,Disorder,2
6043,23138,422526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526,Hereditary clear cell renal cell carcinoma,21394,Disease,36547,Disorder,1
6043,23151,423275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275,Spinocerebellar ataxia type 40,21394,Disease,36547,Disorder,2
6043,23193,424065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065,Solid pseudopapillary carcinoma of pancreas,21394,Disease,36547,Disorder,12
6043,23192,424058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058,Intraductal papillary mucinous carcinoma of pancreas,21394,Disease,36547,Disorder,13
6043,23195,424080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080,Osteoclastic giant cell tumor of pancreas,21394,Disease,36547,Disorder,9
6043,23194,424073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073,Serous cystadenocarcinoma of pancreas,21394,Disease,36547,Disorder,4
6043,23197,424107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107,Congenital myopathy with myasthenic-like onset,21394,Disease,36547,Disorder,2
6043,23196,424099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23198,424261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261,TOR1AIP1-related limb-girdle muscular dystrophy,21394,Disease,36547,Disorder,2
6043,23185,424016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016,Adenocarcinoma of the anal canal,21394,Disease,36547,Disorder,23
6043,23187,424027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027,Progressive myoclonic epilepsy type 8,21394,Disease,36547,Disorder,2
6043,23186,424019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019,Squamous cell carcinoma of the anal canal,21394,Disease,36547,Disorder,23
6043,23189,424039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039,Squamous cell carcinoma of pancreas,21394,Disease,36547,Disorder,22
6043,23191,424053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053,Mucinous cystadenocarcinoma of the pancreas,21394,Disease,36547,Disorder,13
6043,23190,424046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046,Acinar cell carcinoma of pancreas,21394,Disease,36547,Disorder,21
6043,23176,423968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968,Squamous cell carcinoma of the small intestine,21394,Disease,36547,Disorder,20
6043,23180,423994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994,Squamous cell carcinoma of the colon,21394,Disease,36547,Disorder,22
6043,23182,424002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002,Squamous cell carcinoma of the rectum,21394,Disease,36547,Disorder,23
6043,23170,423786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786,Undifferentiated carcinoma of stomach,21394,Disease,36547,Disorder,25
6043,23174,423894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,23231,431140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,23209,425120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120,STING-associated vasculopathy with onset in infancy,21394,Disease,36547,Disorder,2
6043,23202,424943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943,Adenocarcinoma of the liver and intrahepatic biliary tract,21394,Disease,36547,Disorder,23
6043,23203,424970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,21394,Disease,36547,Disorder,19
6043,23206,424991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,21394,Disease,36547,Disorder,1
6043,23207,424996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,21394,Disease,36547,Disorder,23
6043,23204,424975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,21394,Disease,36547,Disorder,18
6043,23205,424982,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982,Biliary cystadenocarcinoma,21394,Disease,36547,Disorder,15
6043,23249,431361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,21394,Disease,36547,Disorder,2
6043,23248,431353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,36561,Category,36540,Group of disorders,1
6043,23245,431341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341,Patent urachus,21415,Morphological anomaly,36547,Disorder,2
6043,23246,431344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344,Urachal sinus,21415,Morphological anomaly,36547,Disorder,1
6043,23241,431272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272,X-linked scapuloperoneal muscular dystrophy,21394,Disease,36547,Disorder,2
6043,23243,431329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329,Autosomal recessive spastic paraplegia type 57,21394,Disease,36547,Disorder,2
6043,23238,431255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255,Scapuloperoneal spinal muscular atrophy,21394,Disease,36547,Disorder,2
6043,23233,431149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149,Combined immunodeficiency due to OX40 deficiency,21394,Disease,36547,Disorder,2
6043,23235,431166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,21394,Disease,36547,Disorder,2
6043,23295,435438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438,Progressive myoclonic epilepsy type 7,21394,Disease,36547,Disorder,2
6043,23294,435387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,21394,Disease,36547,Disorder,2
6043,23291,435329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329,Familial ossifying fibroma,21394,Disease,36547,Disorder,1
6043,23271,434179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179,Orofaciodigital syndrome type 14,21401,Malformation syndrome,36547,Disorder,2
6043,26292,504476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,21394,Disease,36547,Disorder,2
6043,26293,504523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523,Severe combined immunodeficiency due to LAT deficiency,21394,Disease,36547,Disorder,2
6043,26294,504530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530,Combined immunodeficiency due to Moesin deficiency,21394,Disease,36547,Disorder,2
6043,8768,26793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793,Very long chain acyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,5
6043,8775,29072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072,Hereditary pheochromocytoma-paraganglioma,21394,Disease,36547,Disorder,2
6043,8772,28378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378,Tyrosinemia type 2,21394,Disease,36547,Disorder,2
6043,8778,29207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207,Reactive arthritis,21394,Disease,36547,Disorder,1
6043,8776,29073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073,Multiple myeloma,21394,Disease,36547,Disorder,8
6043,8780,29822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822,Spontaneous periodic hypothermia,21394,Disease,36547,Disorder,2
6043,8781,30391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391,Isolated biliary atresia,21415,Morphological anomaly,36547,Disorder,18
6043,8740,320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320,Apparent mineralocorticoid excess,21394,Disease,36547,Disorder,1
6043,8741,724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724,Idiopathic acute eosinophilic pneumonia,21394,Disease,36547,Disorder,2
6043,8743,230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230,Dopamine beta-hydroxylase deficiency,21394,Disease,36547,Disorder,2
6043,8736,725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725,Continuous spikes and waves during sleep,21394,Disease,36547,Disorder,1
6043,8737,590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590,Congenital myasthenic syndrome,21394,Disease,36547,Disorder,2
6043,8738,404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404,Familial hyperaldosteronism type II,21394,Disease,36547,Disorder,1
6043,8739,756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756,Pseudohypoaldosteronism type 1,21394,Disease,36547,Disorder,2
6043,8748,162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162,Cataract-glaucoma syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,8749,544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544,Diffuse large B-cell lymphoma,21436,Clinical group,36540,Group of disorders,26
6043,8750,545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545,Follicular lymphoma,21394,Disease,36547,Disorder,26
6043,8751,88,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88,Idiopathic aplastic anemia,21394,Disease,36547,Disorder,1
6043,8744,102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102,Multiple system atrophy,21394,Disease,36547,Disorder,13
6043,8745,824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824,Primary myelofibrosis,21394,Disease,36547,Disorder,2
6043,8746,748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748,Mendelian susceptibility to mycobacterial diseases,21436,Clinical group,36540,Group of disorders,1
6043,8747,729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729,Polycythemia vera,21394,Disease,36547,Disorder,3
6043,8756,25980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980,X-linked myopathy with excessive autophagy,21394,Disease,36547,Disorder,2
6043,8759,26137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137,Juvenile temporal arteritis,21394,Disease,36547,Disorder,2
6043,8758,26106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106,Hereditary diffuse gastric cancer,21394,Disease,36547,Disorder,2
6043,26354,505395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395,Ventilator-induced diaphragmatic dysfunction,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,8755,25968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968,Benign occipital epilepsy,21394,Disease,36547,Disorder,1
6043,8765,26790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790,Pseudomyxoma peritonei,21394,Disease,36547,Disorder,4
6043,8767,26792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792,Short chain acyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,8766,26791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791,Multiple acyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,8708,49,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49,Penile agenesis,21415,Morphological anomaly,36547,Disorder,2
6043,8709,227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227,Diphallia,21415,Morphological anomaly,36547,Disorder,2
6043,8707,674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674,Accessory pancreas,21415,Morphological anomaly,36547,Disorder,1
6043,8718,266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=266,Autosomal dominant limb-girdle muscular dystrophy type 1A,21394,Disease,36547,Disorder,2
6043,8716,353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353,Gamma-sarcoglycan-related  limb-girdle muscular dystrophy R5,21394,Disease,36547,Disorder,3
6043,8717,219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219,Delta-sarcoglycan-related  limb-girdle muscular dystrophy R6,21394,Disease,36547,Disorder,1
6043,8714,641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641,Multifocal motor neuropathy,21394,Disease,36547,Disorder,2
6043,8715,119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119,Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4,21394,Disease,36547,Disorder,2
6043,8727,603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603,"Distal myopathy, Welander type",21394,Disease,36547,Disorder,2
6043,26326,505227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227,Combined immunodeficiency due to GINS1 deficiency,21394,Disease,36547,Disorder,2
6043,26327,505237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,8726,588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588,Muscle-eye-brain disease,21401,Malformation syndrome,36547,Disorder,1
6043,8725,899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899,Walker-Warburg syndrome,21394,Disease,36547,Disorder,4
6043,26324,505216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216,3-methylglutaconic aciduria type 9,21394,Disease,36547,Disorder,2
6043,8724,272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272,"Congenital muscular dystrophy, Fukuyama type",21401,Malformation syndrome,36547,Disorder,2
6043,26323,505208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208,3-methylglutaconic aciduria type 8,21394,Disease,36547,Disorder,2
6043,8720,268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268,Dysferlin-related  limb-girdle muscular dystrophy R2,21394,Disease,36547,Disorder,2
6043,8734,263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263,Limb-girdle muscular dystrophy,21436,Clinical group,36540,Group of disorders,8
6043,8731,600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600,Vocal cord and pharyngeal distal myopathy,21394,Disease,36547,Disorder,1
6043,26330,505248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,21401,Malformation syndrome,36547,Disorder,2
6043,8730,609,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609,Tibial muscular dystrophy,21394,Disease,36547,Disorder,2
6043,8729,602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602,GNE myopathy,21394,Disease,36547,Disorder,2
6043,26329,505242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,21394,Disease,36547,Disorder,2
6043,26544,508093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093,MEPAN syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26576,508533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,26578,508542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,21394,Disease,36547,Disorder,2
6043,26573,508512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512,Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,21394,Disease,36547,Disorder,2
6043,26575,508529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529,"Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss",21394,Disease,36547,Disorder,2
6043,26574,508523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523,Hyperphenylalaninemia due to DNAJC12 deficiency,21394,Disease,36547,Disorder,2
6043,26569,508488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488,8q24.3 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26568,508476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26571,508501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501,Oral-facial-digital syndrome with short stature and brachymesophalangy,21401,Malformation syndrome,36547,Disorder,2
6043,26570,508498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26390,505652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652,CDKL5-related epileptic encephalopathy,21394,Disease,36547,Disorder,4
6043,26448,506307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307,Stromme syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26451,506358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358,Gabriele-de Vries syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26450,506353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,21394,Disease,36547,Disorder,2
6043,25773,495274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274,Charcot-Marie-Tooth disease type 2T,21394,Disease,36547,Disorder,2
6043,25803,495844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,21394,Disease,36547,Disorder,2
6043,25800,495818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818,9q33.3q34.11 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25805,495879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879,Congenital agenesis of the scrotum,21415,Morphological anomaly,36547,Disorder,2
6043,25804,495875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25813,495930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930,Familial monosomy 7 syndrome,21394,Disease,36547,Disorder,2
6043,25835,496641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25841,496686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,21394,Disease,36547,Disorder,2
6043,25842,496689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,21394,Disease,36547,Disorder,2
6043,25843,496693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25846,496751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751,EVEN-plus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25847,496756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,21394,Disease,36547,Disorder,2
6043,25849,496790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,25674,494433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433,MIRAGE syndrome,21394,Disease,36547,Disorder,2
6043,25675,494439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25672,494424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424,Extracranial carotid artery aneurysm,21415,Morphological anomaly,36547,Disorder,1
6043,25673,494428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428,Idiopathic pleuroparenchymal fibroelastosis,21394,Disease,36547,Disorder,2
6043,25676,494444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,21394,Disease,36547,Disorder,2
6043,25667,494344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344,RERE-related neurodevelopmental syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25668,494348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494348,Early-onset familial noncirrhotic portal hypertension,21394,Disease,36547,Disorder,2
6043,25683,494547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547,Squamous cell carcinoma of the hypopharynx,21394,Disease,36547,Disorder,1
6043,25682,494541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541,Childhood-onset benign chorea with striatal involvement,21394,Disease,36547,Disorder,2
6043,25681,494526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526,Infantile-onset generalized dyskinesia with orofacial involvement,21394,Disease,36547,Disorder,2
6043,25684,494550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550,Squamous cell carcinoma of the larynx,21394,Disease,36547,Disorder,1
6043,26004,500180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,21394,Disease,36547,Disorder,2
6043,26005,500188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,8535,68,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68,Amoebiasis due to free-living amoebae,21394,Disease,36547,Disorder,1
6043,8529,781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781,Q fever,21394,Disease,36547,Disorder,24
6043,26000,500150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150,Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26001,500159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,21401,Malformation syndrome,36547,Disorder,2
6043,26002,500163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163,Witteveen-Kolk syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,8531,302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302,Epidermodysplasia verruciformis,21394,Disease,36547,Disorder,2
6043,8530,297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297,Tick-borne encephalitis,21394,Disease,36547,Disorder,1
6043,8541,182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182,Chromomycosis,21394,Disease,36547,Disorder,1
6043,8540,128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=128,Diphyllobothriasis,21394,Disease,36547,Disorder,2
6043,8542,210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210,Cyclosporosis,21394,Disease,36547,Disorder,1
6043,8537,76,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=76,Strongyloidiasis,21394,Disease,36547,Disorder,2
6043,8536,74,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74,Angiostrongyliasis,21394,Disease,36547,Disorder,1
6043,8539,108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108,Babesiosis,21394,Disease,36547,Disorder,1
6043,8538,78,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=78,Ankylostomiasis,21394,Disease,36547,Disorder,1
6043,25997,500135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25998,500144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25993,500055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055,16p13.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25995,500095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095,Tall stature-intellectual disability-renal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25994,500062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,21394,Disease,36547,Disorder,2
6043,8567,129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129,Pseudopelade of Brocq,21394,Disease,36547,Disorder,1
6043,8566,123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123,Björnstad syndrome,21394,Disease,36547,Disorder,2
6043,8564,898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898,Wagner disease,21394,Disease,36547,Disorder,2
6043,26034,500478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478,Squamous cell carcinoma of the oropharynx,21394,Disease,36547,Disorder,1
6043,8563,518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518,Acute megakaryoblastic leukemia,21394,Disease,36547,Disorder,2
6043,8561,514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514,Acute monoblastic/monocytic leukemia,21394,Disease,36547,Disorder,2
6043,8560,517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517,Acute myelomonocytic leukemia,21394,Disease,36547,Disorder,2
6043,8575,505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505,Graham Little-Piccardi-Lassueur syndrome,21394,Disease,36547,Disorder,1
6043,8574,346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346,Quinquaud folliculitis decalvans,21394,Disease,36547,Disorder,1
6043,8573,222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222,Erosive pustular dermatosis of the scalp,21394,Disease,36547,Disorder,1
6043,8572,202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202,Crandall syndrome,21394,Disease,36547,Disorder,1
6043,8571,170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170,Woolly hair,21394,Disease,36547,Disorder,1
6043,26042,500548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548,Osteosclerotic metaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,8570,169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169,Ringed hair disease,21394,Disease,36547,Disorder,1
6043,26040,500533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,21394,Disease,36547,Disorder,2
6043,8569,168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168,Loose anagen syndrome,21394,Disease,36547,Disorder,1
6043,26041,500545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,21394,Disease,36547,Disorder,2
6043,8568,345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345,Dissecting cellulitis of the scalp,21394,Disease,36547,Disorder,1
6043,8550,591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591,Furuncular myiasis,21394,Disease,36547,Disorder,1
6043,8551,723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723,Pneumocystosis,21394,Disease,36547,Disorder,1
6043,8548,472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472,Isosporiasis,21394,Disease,36547,Disorder,1
6043,8546,401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401,Hymenolepiasis,21394,Disease,36547,Disorder,1
6043,8545,400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400,Cystic echinococcosis,21394,Disease,36547,Disorder,2
6043,26030,500464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,21394,Disease,36547,Disorder,1
6043,8559,520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520,Acute promyelocytic leukemia,21394,Disease,36547,Disorder,4
6043,8556,450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450,Heterotaxia,36561,Category,36540,Group of disorders,2
6043,8554,529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529,Roch-Leri mesosomatous lipomatosis,21394,Disease,36547,Disorder,1
6043,8555,224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224,Neonatal diabetes mellitus,36561,Category,36540,Group of disorders,5
6043,8552,826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826,Sporotrichosis,21394,Disease,36547,Disorder,3
6043,8553,879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879,Tungiasis,21394,Disease,36547,Disorder,1
6043,26073,502363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363,Squamous cell carcinoma of the oral cavity,21394,Disease,36547,Disorder,1
6043,26074,502366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366,Squamous cell carcinoma of the lip,21394,Disease,36547,Disorder,1
6043,26076,502423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,21394,Disease,36547,Disorder,2
6043,26077,502430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430,Metopic ridging-ptosis-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26078,502434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26079,502437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437,4q25 proximal deletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,26080,502444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444,Alkaline ceramidase 3 deficiency,21394,Disease,36547,Disorder,2
6043,8670,91,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91,Aromatase deficiency,21394,Disease,36547,Disorder,2
6043,8671,785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785,Estrogen resistance syndrome,21394,Disease,36547,Disorder,2
6043,8665,873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873,Desmoid tumor,21394,Disease,36547,Disorder,3
6043,8667,553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=553,Cushing syndrome,21436,Clinical group,36540,Group of disorders,9
6043,8660,679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679,Malignant atrophic papulosis,21394,Disease,36547,Disorder,2
6043,8662,901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901,Wells syndrome,21394,Disease,36547,Disorder,2
6043,8663,703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703,Bullous pemphigoid,21394,Disease,36547,Disorder,6
6043,8656,841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841,Sebocystomatosis,21394,Disease,36547,Disorder,1
6043,8657,817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817,Peeling skin syndrome,21436,Clinical group,36540,Group of disorders,1
6043,8659,867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867,Familial multiple trichoepithelioma,21450,Clinical subtype,36554,Subtype of disorder,1
6043,8653,735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735,Porokeratosis of Mibelli,21394,Disease,36547,Disorder,1
6043,25868,497906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906,Childhood-onset basal ganglia degeneration syndrome,21394,Disease,36547,Disorder,2
6043,8652,659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,21394,Disease,36547,Disorder,2
6043,8655,737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737,Porokeratosis plantaris palmaris et disseminata,21394,Disease,36547,Disorder,1
6043,25864,497623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623,C12ORF65-related combined oxidative phosphorylation defect,21436,Clinical group,36540,Group of disorders,2
6043,8649,523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523,Hereditary leiomyomatosis and renal cell cancer,21394,Disease,36547,Disorder,2
6043,25866,497757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,21394,Disease,36547,Disorder,2
6043,25867,497764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764,Spinocerebellar ataxia type 43,21394,Disease,36547,Disorder,2
6043,8650,530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530,Lipoid proteinosis,21401,Malformation syndrome,36547,Disorder,2
6043,25861,497188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188,Diffuse intrinsic pontine glioma,21394,Disease,36547,Disorder,1
6043,8640,454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454,Acquired ichthyosis,21394,Disease,36547,Disorder,1
6043,8700,617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617,Congenital primary megaureter,21415,Morphological anomaly,36547,Disorder,1
6043,8701,488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488,Urachal cyst,21415,Morphological anomaly,36547,Disorder,1
6043,8698,105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105,Atresia of urethra,21415,Morphological anomaly,36547,Disorder,1
6043,8699,237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237,Duplication of urethra,21415,Morphological anomaly,36547,Disorder,2
6043,8697,721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721,Gray platelet syndrome,21394,Disease,36547,Disorder,2
6043,8694,722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722,Hypoplasminogenemia,21394,Disease,36547,Disorder,1
6043,8692,853,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853,Fetal and neonatal alloimmune thrombocytopenia,21394,Disease,36547,Disorder,2
6043,25908,498359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359,Aquagenic palmoplantar keratoderma,21394,Disease,36547,Disorder,1
6043,8691,465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465,Congenital plasminogen activator inhibitor type 1 deficiency,21394,Disease,36547,Disorder,1
6043,8688,310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310,Reflex epilepsy,21436,Clinical group,36540,Group of disorders,1
6043,25902,498251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251,Menstrual cycle-dependent periodic fever,21394,Disease,36547,Disorder,2
6043,8686,1332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332,Medullary thyroid carcinoma,21394,Disease,36547,Disorder,3
6043,8685,877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877,Neuroendocrine neoplasm,36561,Category,36540,Group of disorders,5
6043,8684,73,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73,Gorham-Stout disease,21401,Malformation syndrome,36547,Disorder,2
6043,25898,498228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228,Phyllodes tumor of the prostate,21394,Disease,36547,Disorder,1
6043,8682,728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728,Relapsing polychondritis,21394,Disease,36547,Disorder,5
6043,8680,467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467,Non-acquired combined pituitary hormone deficiency,36561,Category,36540,Group of disorders,2
6043,8676,142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142,Anaplastic thyroid carcinoma,21394,Disease,36547,Disorder,2
6043,8675,143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143,Parathyroid carcinoma,21394,Disease,36547,Disorder,27
6043,8674,759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=759,Central precocious puberty,21394,Disease,36547,Disorder,2
6043,8672,786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786,Generalized glucocorticoid resistance syndrome,21394,Disease,36547,Disorder,1
6043,8602,1461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461,Criss-cross heart,21415,Morphological anomaly,36547,Disorder,2
6043,8607,875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875,Primary pediatric heart tumor,21394,Disease,36547,Disorder,1
6043,8593,615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615,Familial atrial myxoma,21394,Disease,36547,Disorder,2
6043,25936,498700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498700,Limbic encephalitis with neurexin-3 antibodies,21394,Disease,36547,Disorder,2
6043,8594,874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874,Primary adult heart tumor,21394,Disease,36547,Disorder,1
6043,25941,499009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009,Congenital syphilis,21394,Disease,36547,Disorder,15
6043,8597,1330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330,Partial atrioventricular septal defect,21415,Morphological anomaly,36547,Disorder,2
6043,8599,1677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677,Familial idiopathic dilatation of the right atrium,21415,Morphological anomaly,36547,Disorder,1
6043,25928,498497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497,Short rib-polydactyly syndrome type 5,21401,Malformation syndrome,36547,Disorder,2
6043,8585,720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720,Pili bifurcati,21394,Disease,36547,Disorder,1
6043,8584,671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671,Primary cutis verticis gyrata,21436,Clinical group,36540,Group of disorders,1
6043,8587,864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864,Trichofolliculoma,21394,Disease,36547,Disorder,1
6043,25930,498602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602,Sugarman brachydactyly,21415,Morphological anomaly,36547,Disorder,2
6043,8591,247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247,Arrhythmogenic right ventricular cardiomyopathy,21436,Clinical group,36540,Group of disorders,2
6043,25934,498693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,21394,Disease,36547,Disorder,2
6043,8577,444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444,Marie Unna hereditary hypotrichosis,21394,Disease,36547,Disorder,1
6043,8576,2221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221,Acquired hypertrichosis lanuginosa,21394,Disease,36547,Disorder,2
6043,25921,498474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474,Hyaline fibromatosis syndrome,21394,Disease,36547,Disorder,2
6043,8578,499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499,Kerion celsi,21394,Disease,36547,Disorder,1
6043,25924,498485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,8581,573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573,Monilethrix,21394,Disease,36547,Disorder,1
6043,25925,498488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488,Overgrowth syndrome with 2q37 translocation,21401,Malformation syndrome,36547,Disorder,2
6043,8580,525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525,Lichen planopilaris,21394,Disease,36547,Disorder,2
6043,8583,700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700,Alopecia totalis,21394,Disease,36547,Disorder,1
6043,8582,840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840,Syringocystadenoma papilliferum,21394,Disease,36547,Disorder,2
6043,8632,315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315,Erythrokeratoderma ''en cocardes'',21394,Disease,36547,Disorder,1
6043,8638,409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409,Hyperkeratosis lenticularis perstans,21394,Disease,36547,Disorder,1
6043,8626,41,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41,Dyschromatosis symmetrica hereditaria,21394,Disease,36547,Disorder,3
6043,8627,122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122,Birt-Hogg-Dubé syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,8624,38,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38,Acrokeratoelastoidosis of Costa,21394,Disease,36547,Disorder,1
6043,8625,39,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39,Acromelanosis,21394,Disease,36547,Disorder,2
6043,8631,316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316,Progressive symmetric erythrokeratodermia,21394,Disease,36547,Disorder,1
6043,8618,658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658,Non-histaminic angioedema,21436,Clinical group,36540,Group of disorders,1
6043,8617,3282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282,Multifocal atrial tachycardia,21394,Disease,36547,Disorder,1
6043,8616,188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188,Systemic capillary leak syndrome,21394,Disease,36547,Disorder,2
6043,8623,303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303,Dystrophic epidermolysis bullosa,21436,Clinical group,36540,Group of disorders,12
6043,8622,305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305,Junctional epidermolysis bullosa,21436,Clinical group,36540,Group of disorders,11
6043,8621,3406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406,Ulerythema ophryogenesis,21394,Disease,36547,Disorder,1
6043,8620,2908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908,Kindler syndrome,21394,Disease,36547,Disorder,2
6043,8611,81,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81,Antisynthetase syndrome,21394,Disease,36547,Disorder,2
6043,8610,563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563,Peripartum cardiomyopathy,21394,Disease,36547,Disorder,7
6043,8609,764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764,Pyomyositis,21394,Disease,36547,Disorder,1
6043,8608,779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779,Reynolds syndrome,21394,Disease,36547,Disorder,1
6043,8614,838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838,Susac syndrome,21394,Disease,36547,Disorder,2
6043,8613,889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889,Cutaneous small vessel vasculitis,21394,Disease,36547,Disorder,2
6043,8612,482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482,Kimura disease,21394,Disease,36547,Disorder,2
6043,25329,486811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,21394,Disease,36547,Disorder,2
6043,25330,486815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,21394,Disease,36547,Disorder,2
6043,25310,485418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418,EMILIN-1-related connective tissue disease,21394,Disease,36547,Disorder,2
6043,25311,485421,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,21443,Etiological subtype,36554,Subtype of disorder,2
6043,25309,485405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405,16p12.1p12.3 triplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25306,485350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350,CLCN4-related X-linked intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25307,485358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358,Propylthiouracil embryofetopathy,21401,Malformation syndrome,36547,Disorder,1
6043,25256,482606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25255,482601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601,Adenylosuccinate synthetase-like 1-related distal myopathy,21394,Disease,36547,Disorder,2
6043,9800,31828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828,Digitalis poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,25224,480864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,9801,31837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837,Pulmonary venoocclusive disease,21394,Disease,36547,Disorder,2
6043,25230,480907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25229,480898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,21394,Disease,36547,Disorder,2
6043,25228,480880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,21401,Malformation syndrome,36547,Disorder,2
6043,9794,31740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740,Hypersensitivity pneumonitis,21436,Clinical group,36540,Group of disorders,1
6043,25219,480556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556,Isolated neonatal sclerosing cholangitis,21394,Disease,36547,Disorder,2
6043,9793,31709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709,Infantile convulsions and choreoathetosis,21394,Disease,36547,Disorder,1
6043,9798,31826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826,Ethylene glycol poisoning,21394,Disease,36547,Disorder,1
6043,25223,480851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851,Hereditary thrombocytopenia with early-onset myelofibrosis,21394,Disease,36547,Disorder,2
6043,9799,31827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31827,Paraquat poisoning,21394,Disease,36547,Disorder,1
6043,9796,31824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31824,Colchicine poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,25220,480682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682,POGLUT1-related  limb-girdle muscular dystrophy R21,21394,Disease,36547,Disorder,2
6043,9797,31825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31825,Methanol poisoning,21394,Disease,36547,Disorder,1
6043,25240,481665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665,USP18 deficiency,21394,Disease,36547,Disorder,2
6043,25247,482077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077,HTRA1-related autosomal dominant cerebral small vessel disease,21394,Disease,36547,Disorder,2
6043,25232,481152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152,PYCR2-related microcephaly-progressive leukoencephalopathy,21401,Malformation syndrome,36547,Disorder,2
6043,25239,481662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662,Familial Chilblain lupus,21394,Disease,36547,Disorder,2
6043,25205,480476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476,Progressive familial intrahepatic cholestasis type 5,21450,Clinical subtype,36554,Subtype of disorder,2
6043,25207,480491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491,MYO5B-related progressive familial intrahepatic cholestasis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,25206,480483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483,Progressive familial intrahepatic cholestasis type 4,21450,Clinical subtype,36554,Subtype of disorder,2
6043,25213,480528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25215,480536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536,MSH3-related attenuated familial adenomatous polyposis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,25211,480520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520,Caroli syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,25159,477814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25152,477781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781,Primary condylar hyperplasia,21394,Disease,36547,Disorder,1
6043,25153,477787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,21394,Disease,36547,Disorder,2
6043,25166,478029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029,Combined oxidative phosphorylation defect type 29,21394,Disease,36547,Disorder,2
6043,25167,478042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042,Combined oxidative phosphorylation defect type 30,21394,Disease,36547,Disorder,2
6043,25164,477993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25162,477857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,21394,Disease,36547,Disorder,2
6043,25160,477817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817,PMP22-RAI1 contiguous gene duplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25161,477831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831,Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25168,478049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,25178,478664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664,Hereditary sensory and autonomic neuropathy type 8,21394,Disease,36547,Disorder,2
6043,25135,477650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650,Fibroblastic rheumatism,21394,Disease,36547,Disorder,2
6043,25136,477661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661,IL21-related infantile inflammatory bowel disease,21394,Disease,36547,Disorder,2
6043,25139,477684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684,Combined oxidative phosphorylation defect type 26,21394,Disease,36547,Disorder,2
6043,25138,477673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,21394,Disease,36547,Disorder,2
6043,25143,477749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,21394,Disease,36547,Disorder,2
6043,25142,477742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742,Nodular fasciitis,21394,Disease,36547,Disorder,1
6043,25150,477774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774,Combined oxidative phosphorylation defect type 27,21394,Disease,36547,Disorder,2
6043,25091,476119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25089,476113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113,Combined immunodeficiency due to TFRC deficiency,21394,Disease,36547,Disorder,2
6043,25093,476126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25102,476406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406,Congenital generalized hypercontractile muscle stiffness syndrome,21394,Disease,36547,Disorder,2
6043,25100,476394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394,PMP2-related Charcot-Marie-Tooth disease type 1,21394,Disease,36547,Disorder,2
6043,25553,493342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342,Vibratory urticaria,21394,Disease,36547,Disorder,2
6043,25412,488642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642,TELO2-related intellectual disability-neurodevelopmental disorder,21401,Malformation syndrome,36547,Disorder,2
6043,25413,488647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647,DDX41-related hematologic malignancy predisposition syndrome,21394,Disease,36547,Disorder,2
6043,25414,488650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650,"Distal myopathy, Tateyama type",21394,Disease,36547,Disorder,2
6043,25408,488618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618,Transketolase deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,25409,488627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25410,488632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632,TBCK-related intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25411,488635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,21394,Disease,36547,Disorder,2
6043,25393,488239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239,Acute macular neuroretinopathy,21394,Disease,36547,Disorder,2
6043,25392,488232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232,Split-foot malformation-mesoaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25399,488333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,21394,Disease,36547,Disorder,2
6043,25397,488280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280,14q32 duplication syndrome,21394,Disease,36547,Disorder,2
6043,25401,488437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437,SIX2-related frontonasal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,25400,488434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434,"Camptodactyly syndrome, Guadalajara type 3",21401,Malformation syndrome,36547,Disorder,2
6043,25407,488613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25404,488594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594,Autosomal recessive spastic paraplegia type 76,21394,Disease,36547,Disorder,2
6043,25390,488197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,21394,Disease,36547,Disorder,2
6043,25388,488168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25389,488191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191,Female infertility due to oocyte meiotic arrest,21394,Disease,36547,Disorder,2
6043,25364,487796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,25369,487814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,21394,Disease,36547,Disorder,2
6043,25368,487809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809,Pediatric collagenous gastritis,21394,Disease,36547,Disorder,2
6043,25371,487825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825,Pierpont syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,9294,31205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205,Rat-bite fever,21394,Disease,36547,Disorder,1
6043,9293,31204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204,Nocardiosis,21394,Disease,36547,Disorder,1
6043,9291,31202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31202,Melioidosis,21394,Disease,36547,Disorder,3
6043,9288,31150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150,Tangier disease,21394,Disease,36547,Disorder,3
6043,9284,31043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,21394,Disease,36547,Disorder,2
6043,9285,31112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112,Dermatofibrosarcoma protuberans,21394,Disease,36547,Disorder,1
6043,9282,30924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924,Primary hypomagnesemia with secondary hypocalcemia,21394,Disease,36547,Disorder,2
6043,9283,30925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925,Hereditary central diabetes insipidus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,25083,476084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084,BVES-related limb-girdle muscular dystrophy,21394,Disease,36547,Disorder,2
6043,25086,476096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096,Erythrokeratodermia-cardiomyopathy syndrome,21394,Disease,36547,Disorder,2
6043,25087,476102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476102,Hereditary pediatric Behçet-like disease,21394,Disease,36547,Disorder,2
6043,25085,476093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093,Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,21394,Disease,36547,Disorder,2
6043,11000,71278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,21394,Disease,36547,Disorder,2
6043,11001,71279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279,CANOMAD syndrome,21394,Disease,36547,Disorder,2
6043,10993,71271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271,Split hand-split foot-deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10994,71272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272,Sandifer syndrome,21394,Disease,36547,Disorder,1
6043,10995,71273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273,Renal nutcracker syndrome,21394,Disease,36547,Disorder,1
6043,10996,71274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274,Disseminated peritoneal leiomyomatosis,21394,Disease,36547,Disorder,2
6043,10997,71275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275,Rh deficiency syndrome,21394,Disease,36547,Disorder,1
6043,10998,71276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276,Silent sinus syndrome,21394,Disease,36547,Disorder,2
6043,10999,71277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277,Classic glucose transporter type 1 deficiency syndrome,21394,Disease,36547,Disorder,3
6043,10987,71212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,10986,71211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211,Neuromyelitis optica spectrum disorder,21394,Disease,36547,Disorder,2
6043,10989,71267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10988,71213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213,Retinal capillary malformation,21394,Disease,36547,Disorder,1
6043,10976,71198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71198,Rare pulmonary hypertension,36561,Category,36540,Group of disorders,1
6043,28179,558411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411,Idiopathic gastroparesis,21394,Disease,36547,Disorder,1
6043,10962,70591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591,Chronic thromboembolic pulmonary hypertension,21394,Disease,36547,Disorder,2
6043,10963,70592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592,Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,21394,Disease,36547,Disorder,2
6043,10960,70589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589,Bronchopulmonary dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,10966,70595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,21394,Disease,36547,Disorder,1
6043,10967,70596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596,Congenital Epstein-Barr virus infection,21394,Disease,36547,Disorder,1
6043,10964,70593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,21394,Disease,36547,Disorder,1
6043,10965,70594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,21394,Disease,36547,Disorder,2
6043,10954,70578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578,Adult acute respiratory distress syndrome,21394,Disease,36547,Disorder,8
6043,10953,70573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573,Small cell lung cancer,21394,Disease,36547,Disorder,1
6043,10952,70568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568,Post-transplant lymphoproliferative disease,21394,Disease,36547,Disorder,1
6043,10959,70588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588,Meconium aspiration syndrome,21394,Disease,36547,Disorder,1
6043,10958,70587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70587,Infant acute respiratory distress syndrome,21394,Disease,36547,Disorder,2
6043,10945,70472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",21394,Disease,36547,Disorder,1
6043,10951,70567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567,Cholangiocarcinoma,21394,Disease,36547,Disorder,8
6043,10950,70482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482,Carcinoma of esophagus,21436,Clinical group,36540,Group of disorders,38
6043,10949,70476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476,Vernal keratoconjunctivitis,21394,Disease,36547,Disorder,7
6043,10948,70475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475,Radiation proctitis,21394,Disease,36547,Disorder,1
6043,10941,69744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744,Circumscribed palmoplantar hypokeratosis,21394,Disease,36547,Disorder,2
6043,10942,69745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745,Warty dyskeratoma,21394,Disease,36547,Disorder,1
6043,10936,69735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,21394,Disease,36547,Disorder,2
6043,10937,69736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736,Bilateral acute depigmentation of the iris,21394,Disease,36547,Disorder,2
6043,10938,69737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737,Bosley-Salih-Alorainy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10939,69739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739,Athabaskan brainstem dysgenesis syndrome,21394,Disease,36547,Disorder,2
6043,10932,69663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663,Low phospholipid-associated cholelithiasis,21394,Disease,36547,Disorder,1
6043,10933,69665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665,Intrahepatic cholestasis of pregnancy,21394,Disease,36547,Disorder,1
6043,10935,69723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723,Tyrosinemia type 3,21394,Disease,36547,Disorder,2
6043,10924,69126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126,Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,21394,Disease,36547,Disorder,2
6043,10921,69087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087,Naegeli-Franceschetti-Jadassohn syndrome,21394,Disease,36547,Disorder,1
6043,10923,69125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125,Anonychia with flexural pigmentation,21401,Malformation syndrome,36547,Disorder,2
6043,10922,69088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088,Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,21394,Disease,36547,Disorder,2
6043,10917,69083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",21401,Malformation syndrome,36547,Disorder,2
6043,10916,69082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082,Odonto-tricho-ungual-digito-palmar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10919,69085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085,Limb-mammary syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10918,69084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084,Pure hair and nail ectodermal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,10913,69077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077,Rhabdoid tumor,21394,Disease,36547,Disorder,3
6043,10912,69076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076,Familial renal glucosuria,21394,Disease,36547,Disorder,1
6043,10914,69078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078,Liposarcoma,21394,Disease,36547,Disorder,3
6043,10910,69061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061,Idiopathic steroid-sensitive nephrotic syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,10911,69063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,21394,Disease,36547,Disorder,2
6043,10908,67048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048,3-methylglutaconic aciduria type 4,21394,Disease,36547,Disorder,1
6043,10909,69028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028,Dysostosis with brachydactyly,36561,Category,36540,Group of disorders,1
6043,10906,67046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046,3-methylglutaconic aciduria type 1,21394,Disease,36547,Disorder,2
6043,10907,67047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047,3-methylglutaconic aciduria type 3,21394,Disease,36547,Disorder,1
6043,10904,67044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044,Thrombocytopenia with congenital dyserythropoietic anemia,21394,Disease,36547,Disorder,2
6043,10905,67045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045,X-linked intellectual disability with isolated growth hormone deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,10902,67042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042,Late-onset retinal degeneration,21394,Disease,36547,Disorder,1
6043,10903,67043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043,Amoebic keratitis,21394,Disease,36547,Disorder,1
6043,10900,67039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039,Segmental odontomaxillary dysplasia,21394,Disease,36547,Disorder,2
6043,10901,67041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041,Hyaluronidase deficiency,21394,Disease,36547,Disorder,1
6043,10899,67038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038,B-cell chronic lymphocytic leukemia,21394,Disease,36547,Disorder,2
6043,10897,67036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036,Autosomal dominant optic atrophy and cataract,21394,Disease,36547,Disorder,2
6043,10894,66646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646,Cutaneous mastocytosis,21436,Clinical group,36540,Group of disorders,1
6043,10893,66637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637,Diaphanospondylodysostosis,21401,Malformation syndrome,36547,Disorder,2
6043,10892,66634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634,Dilated cardiomyopathy with ataxia,21394,Disease,36547,Disorder,1
6043,10891,66633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633,Sensorineural hearing loss-early graying-essential tremor syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10889,66631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631,CEDNIK syndrome,21394,Disease,36547,Disorder,2
6043,10888,66630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630,Congenital pseudoarthrosis of the clavicle,21394,Disease,36547,Disorder,2
6043,10887,66629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629,Goldberg-Shprintzen megacolon syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10886,66628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628,Obesity due to congenital leptin deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10885,66627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627,Pigmented villonodular synovitis,21394,Disease,36547,Disorder,1
6043,10884,66625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625,Cerebrooculonasal syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10883,66624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624,PANDAS,21394,Disease,36547,Disorder,1
6043,10882,66529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529,Tako-Tsubo cardiomyopathy,21394,Disease,36547,Disorder,2
6043,10881,66518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518,Short fifth metacarpals-insulin resistance syndrome,21394,Disease,36547,Disorder,2
6043,10880,65798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798,Goodman syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10865,65283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283,Timothy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10864,65282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282,Carvajal syndrome,21394,Disease,36547,Disorder,2
6043,28337,562639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,21394,Disease,36547,Disorder,1
6043,10867,65285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285,Lhermitte-Duclos disease,21394,Disease,36547,Disorder,2
6043,10869,65287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287,Beta-ureidopropionase deficiency,21394,Disease,36547,Disorder,2
6043,10868,65286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286,3q29 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,10871,65681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681,Vaginal atresia,21415,Morphological anomaly,36547,Disorder,1
6043,10870,65288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10873,65683,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683,Isolated focal cortical dysplasia,21394,Disease,36547,Disorder,1
6043,10872,65682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682,Benign recurrent intrahepatic cholestasis,21394,Disease,36547,Disorder,1
6043,10875,65720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720,Arthrogryposis-severe scoliosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10874,65684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684,Monomelic amyotrophy,21394,Disease,36547,Disorder,1
6043,10877,65748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748,Multiple self-healing squamous epithelioma,21394,Disease,36547,Disorder,2
6043,10876,65743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743,Autosomal dominant multiple pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10879,65759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759,Carpenter syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10878,65753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753,Charcot-Marie-Tooth disease type 1,21436,Clinical group,36540,Group of disorders,1
6043,10848,64744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744,IgG4-related thyroid disease,21394,Disease,36547,Disorder,2
6043,10849,64745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745,Pruritic urticarial papules and plaques of pregnancy,21394,Disease,36547,Disorder,1
6043,10850,64746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,21436,Clinical group,36540,Group of disorders,1
6043,10851,64747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747,X-linked Charcot-Marie-Tooth disease,21436,Clinical group,36540,Group of disorders,1
6043,10852,64748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748,Dejerine-Sottas syndrome,21394,Disease,36547,Disorder,1
6043,10853,64749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749,Charcot-Marie-Tooth disease type 4,21436,Clinical group,36540,Group of disorders,1
6043,28329,562509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509,Heme oxygenase-1 deficiency,21394,Disease,36547,Disorder,2
6043,10856,64752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752,Hereditary sensory and autonomic neuropathy type 5,21394,Disease,36547,Disorder,2
6043,10857,64753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753,Spinocerebellar ataxia with axonal neuropathy type 2,21394,Disease,36547,Disorder,1
6043,10858,64754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754,Nevus comedonicus syndrome,21394,Disease,36547,Disorder,1
6043,28331,562528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10859,64755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755,Becker nevus syndrome,21394,Disease,36547,Disorder,1
6043,28333,562559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10862,65250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65250,Perineural cyst,21394,Disease,36547,Disorder,2
6043,28334,562569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10833,64542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542,"Acrofacial dysostosis, Kennedy-Teebi type",21401,Malformation syndrome,36547,Disorder,2
6043,10832,64280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280,Childhood absence epilepsy,21394,Disease,36547,Disorder,2
6043,10843,64739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739,Ovarian hyperstimulation syndrome,21394,Disease,36547,Disorder,1
6043,10841,64734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734,Iridocorneal endothelial syndrome,21394,Disease,36547,Disorder,1
6043,10847,64743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743,Hepatoportal sclerosis,21394,Disease,36547,Disorder,1
6043,10846,64742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742,Pleuropulmonary blastoma,21394,Disease,36547,Disorder,2
6043,10845,64741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741,Pulmonary blastoma,21394,Disease,36547,Disorder,8
6043,10816,63259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259,Iniencephaly,21415,Morphological anomaly,36547,Disorder,2
6043,10822,63440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63440,Isolated oxycephaly,21415,Morphological anomaly,36547,Disorder,1
6043,10823,63442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442,Angel-shaped phalango-epiphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,10820,63273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273,Distal myopathy with posterior leg and anterior hand involvement,21394,Disease,36547,Disorder,2
6043,10821,63275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275,Pemphigoid gestationis,21394,Disease,36547,Disorder,4
6043,10826,63454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454,Pattern dystrophy,36561,Category,36540,Group of disorders,1
6043,10827,63455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455,Paraneoplastic pemphigus,21394,Disease,36547,Disorder,2
6043,10824,63443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443,Rare epithelial tumor of stomach,36561,Category,36540,Group of disorders,7
6043,10825,63446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446,Acrocapitofemoral dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,10829,63862,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862,Schisis association,21401,Malformation syndrome,36547,Disorder,1
6043,10805,60040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10804,60039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039,Pudendal neuralgia,21394,Disease,36547,Disorder,2
6043,10806,60041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041,Congenital heart block,21394,Disease,36547,Disorder,1
6043,10801,60032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032,Recurrent respiratory papillomatosis,21394,Disease,36547,Disorder,4
6043,10802,60033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033,Idiopathic bronchiectasis,21394,Disease,36547,Disorder,2
6043,10788,59303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,21394,Disease,36547,Disorder,2
6043,10790,59305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305,Gestational trophoblastic neoplasm,21436,Clinical group,36540,Group of disorders,1
6043,10791,59306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306,McLeod neuroacanthocytosis syndrome,21394,Disease,36547,Disorder,2
6043,10785,59298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298,Schilder disease,21394,Disease,36547,Disorder,1
6043,10796,60015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015,Enlarged parietal foramina,21401,Malformation syndrome,36547,Disorder,2
6043,28397,564003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003,Osteochondrosis of the metatarsal bone,21394,Disease,36547,Disorder,1
6043,10797,60025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025,Pulmonary alveolar microlithiasis,21394,Disease,36547,Disorder,1
6043,28396,563991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991,Osteochondrosis of the tarsal bone,21394,Disease,36547,Disorder,1
6043,10798,60026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026,Pulmonary nodular lymphoid hyperplasia,21394,Disease,36547,Disorder,1
6043,28399,564178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178,Primary hypomagnesemia with refractory seizures and intellectual disability,21394,Disease,36547,Disorder,2
6043,10799,60030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030,Loeys-Dietz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10792,59315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315,Rhombencephalosynapsis,21401,Malformation syndrome,36547,Disorder,2
6043,10795,60014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60014,Argyria,21394,Disease,36547,Disorder,1
6043,10775,57777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57777,Cirrhotic cardiomyopathy,21394,Disease,36547,Disorder,1
6043,10774,57196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196,Medial condensing osteitis of the clavicle,21394,Disease,36547,Disorder,2
6043,28372,563690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563690,Furuncular myiasis due to Cordylobia rodhaini,21450,Clinical subtype,36554,Subtype of disorder,1
6043,10771,57145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145,SUNCT syndrome,21394,Disease,36547,Disorder,2
6043,28370,563684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563684,Furuncular myiasis due to Dermatobia hominis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28371,563687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563687,Furuncular myiasis due to Cordylobia anthropophaga,21450,Clinical subtype,36554,Subtype of disorder,1
6043,10770,56970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970,Human prion disease,36561,Category,36540,Group of disorders,2
6043,10768,56425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425,Cold agglutinin disease,21394,Disease,36547,Disorder,1
6043,10783,59181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181,Sorsby pseudoinflammatory fundus dystrophy,21394,Disease,36547,Disorder,1
6043,10782,59135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135,Laing early-onset distal myopathy,21394,Disease,36547,Disorder,1
6043,10778,58017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017,Classic hairy cell leukemia,21394,Disease,36547,Disorder,9
6043,10777,57782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782,Mazabraud syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10758,55595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595,TNP03-related  limb-girdle muscular dystrophy D2,21394,Disease,36547,Disorder,2
6043,10759,55596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596,HNRNPDL-related  limb-girdle muscular dystrophy D3,21394,Disease,36547,Disorder,2
6043,10756,54595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595,Craniopharyngioma,21394,Disease,36547,Disorder,4
6043,10754,54368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54368,Sarcocystosis,21394,Disease,36547,Disorder,1
6043,10755,54370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370,Primary membranoproliferative glomerulonephritis,21394,Disease,36547,Disorder,1
6043,10752,54272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272,Hepatocellular adenoma,21394,Disease,36547,Disorder,1
6043,10766,56304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304,Atelosteogenesis type II,21401,Malformation syndrome,36547,Disorder,2
6043,10767,56305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305,Atelosteogenesis type III,21401,Malformation syndrome,36547,Disorder,2
6043,10765,56044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044,Carcinoma of gallbladder and extrahepatic biliary tract,21436,Clinical group,36540,Group of disorders,7
6043,10762,55880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880,Chondrosarcoma,21394,Disease,36547,Disorder,3
6043,10763,55881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881,Adamantinoma,21394,Disease,36547,Disorder,3
6043,10760,55654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654,Hypotrichosis simplex,21394,Disease,36547,Disorder,2
6043,28451,565858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28448,565788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788,Infantile inflammatory bowel disease with neurological involvement,21394,Disease,36547,Disorder,2
6043,11239,79213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213,Mucopolysaccharidosis,36561,Category,36540,Group of disorders,20
6043,28452,565899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899,POMGNT2-related limb-girdle muscular dystrophy R24,21394,Disease,36547,Disorder,2
6043,28453,565909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909,Calpain-3-related limb-girdle muscular dystrophy D4,21394,Disease,36547,Disorder,2
6043,11259,79233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,21394,Disease,36547,Disorder,1
6043,11256,79230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230,Hemochromatosis type 2,21394,Disease,36547,Disorder,2
6043,11263,79237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237,Galactokinase deficiency,21394,Disease,36547,Disorder,1
6043,28477,566067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,21394,Disease,36547,Disorder,2
6043,11260,79234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234,Crigler-Najjar syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11261,79235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235,Crigler-Najjar syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11215,79189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189,Peroxisome biogenesis disorder,21436,Clinical group,36540,Group of disorders,5
6043,28443,565624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624,Combined oxidative phosphorylation defect type 39,21394,Disease,36547,Disorder,2
6043,28442,565612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612,Triglyceride deposit cardiomyovasculopathy,21394,Disease,36547,Disorder,2
6043,28446,565782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565782,Methotrexate toxicity,21394,Disease,36547,Disorder,1
6043,11183,79157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157,2-methylbutyryl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,11182,79156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,21394,Disease,36547,Disorder,2
6043,11181,79155,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155,Hydroxykynureninuria,21394,Disease,36547,Disorder,2
6043,11180,79154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154,2-aminoadipic 2-oxoadipic aciduria,21394,Disease,36547,Disorder,2
6043,11179,79153,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153,Idiopathic trachyonychia,21394,Disease,36547,Disorder,1
6043,11178,79152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152,Disseminated superficial actinic porokeratosis,21394,Disease,36547,Disorder,1
6043,11177,79151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151,Acrokeratosis verruciformis of Hopf,21394,Disease,36547,Disorder,1
6043,11175,79149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149,Dermochondrocorneal dystrophy,21394,Disease,36547,Disorder,2
6043,11174,79148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148,Elastosis perforans serpiginosa,21394,Disease,36547,Disorder,1
6043,11173,79147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147,Familial reactive perforating collagenosis,21394,Disease,36547,Disorder,2
6043,11171,79145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145,Dowling-Degos disease,21394,Disease,36547,Disorder,1
6043,11170,79144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144,Isolated congenital onychodysplasia,21394,Disease,36547,Disorder,1
6043,11169,79143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143,Isolated congenital anonychia,21394,Disease,36547,Disorder,2
6043,11198,79172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172,Creatine deficiency syndrome,21436,Clinical group,36540,Group of disorders,1
6043,11194,79168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168,Disorder of bile acid synthesis,36561,Category,36540,Group of disorders,1
6043,11184,79158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158,Cerebral organic aciduria,36561,Category,36540,Group of disorders,1
6043,11185,79159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159,Isobutyryl-CoA dehydrogenase deficiency,21394,Disease,36547,Disorder,1
6043,11149,79107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107,Developmental malformations-deafness-dystonia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28493,566231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,21394,Disease,36547,Disorder,2
6043,11148,79106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106,Eiken syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28494,566243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,21394,Disease,36547,Disorder,2
6043,11151,79118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,21394,Disease,36547,Disorder,2
6043,11150,79113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113,Mandibulofacial dysostosis-microcephaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11144,79102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102,Thyrotoxic periodic paralysis,21394,Disease,36547,Disorder,1
6043,11147,79105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105,Myxofibrosarcoma,21394,Disease,36547,Disorder,1
6043,11141,79099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099,Interstitial granulomatous dermatitis with arthritis,21394,Disease,36547,Disorder,2
6043,11140,79098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098,Sympathetic ophthalmia,21394,Disease,36547,Disorder,2
6043,11143,79101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101,Hyperprolinemia type 2,21394,Disease,36547,Disorder,1
6043,28487,566192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192,Congenital autosomal recessive small-platelet thrombocytopenia,21394,Disease,36547,Disorder,2
6043,11142,79100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100,Atrophoderma vermiculata,21394,Disease,36547,Disorder,1
6043,11137,79095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095,Congenital bile acid synthesis defect type 4,21394,Disease,36547,Disorder,2
6043,11136,79094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094,Grange syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28482,566175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,21394,Disease,36547,Disorder,1
6043,11139,79097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097,Folinic acid-responsive seizures,21394,Disease,36547,Disorder,1
6043,11138,79096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096,Pyridoxal phosphate-responsive seizures,21394,Disease,36547,Disorder,2
6043,11164,79138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138,Bickerstaff brainstem encephalitis,21394,Disease,36547,Disorder,1
6043,11165,79139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139,Japanese encephalitis,21394,Disease,36547,Disorder,2
6043,11166,79140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140,Cutaneous neuroendocrine carcinoma,21394,Disease,36547,Disorder,10
6043,11167,79141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141,Hereditary painful callosities,21394,Disease,36547,Disorder,2
6043,11160,79134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134,DEND syndrome,21394,Disease,36547,Disorder,2
6043,11161,79135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135,Episodic ataxia type 3,21394,Disease,36547,Disorder,2
6043,11162,79136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136,Episodic ataxia type 4,21394,Disease,36547,Disorder,2
6043,11163,79137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,21394,Disease,36547,Disorder,1
6043,11156,79129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129,Trichodysplasia-amelogenesis imperfecta syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11159,79133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133,Focal facial dermal dysplasia type I,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11152,79124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,21394,Disease,36547,Disorder,2
6043,11153,79126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126,Acute interstitial pneumonia,21394,Disease,36547,Disorder,1
6043,11154,79127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127,Respiratory bronchiolitis-interstitial lung disease syndrome,21394,Disease,36547,Disorder,1
6043,11155,79128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128,Lymphoid interstitial pneumonia,21394,Disease,36547,Disorder,1
6043,11106,77293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293,Niemann-Pick disease type B,21394,Disease,36547,Disorder,1
6043,11107,77295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295,Odontoleukodystrophy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11104,77261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261,Gaucher disease type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11105,77292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292,Niemann-Pick disease type A,21394,Disease,36547,Disorder,2
6043,11110,77298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11111,77299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299,Microphthalmia-brain atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11108,77296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296,Morgagni-Stewart-Morel syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,11109,77297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297,Majeed syndrome,21394,Disease,36547,Disorder,2
6043,28585,567502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,21394,Disease,36547,Disorder,2
6043,11112,77300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11113,77301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301,Monosomy 9q22.3,21401,Malformation syndrome,36547,Disorder,2
6043,28591,567550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550,Idiopathic multidrug-resistant nephrotic syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28590,567548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548,Idiopathic steroid-resistant nephrotic syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,28589,567546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,21422,Clinical syndrome,36547,Disorder,1
6043,28588,567544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544,Idiopathic non-lupus full-house nephropathy,21422,Clinical syndrome,36547,Disorder,1
6043,11127,79083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083,PPARG-related familial partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,11126,79078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078,IgG4-related dacryoadenitis and sialadenitis,21394,Disease,36547,Disorder,1
6043,11125,79076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076,Juvenile polyposis of infancy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11131,79087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087,Acquired partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,11130,79086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086,Acquired generalized lipodystrophy,21394,Disease,36547,Disorder,2
6043,11129,79085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085,AKT2-related familial partial lipodystrophy,21394,Disease,36547,Disorder,2
6043,11128,79084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084,"Familial partial lipodystrophy, Köbberling type",21394,Disease,36547,Disorder,2
6043,28606,567983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983,Parenteral nutrition-associated cholestasis,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11135,79093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093,Foix-Alajouanine syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,11134,79091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,21394,Disease,36547,Disorder,2
6043,11132,79088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088,Localized lipodystrophy,21436,Clinical group,36540,Group of disorders,1
6043,11072,75327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327,North Carolina macular dystrophy,21394,Disease,36547,Disorder,2
6043,11073,75373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373,Progressive bifocal chorioretinal atrophy,21394,Disease,36547,Disorder,2
6043,11074,75374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374,Bradyopsia,21394,Disease,36547,Disorder,2
6043,11075,75376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376,Familial drusen,21394,Disease,36547,Disorder,1
6043,11076,75377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377,Central areolar choroidal dystrophy,21394,Disease,36547,Disorder,2
6043,11077,75378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378,Oligocone trichromacy,21394,Disease,36547,Disorder,2
6043,11078,75381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381,Cystoid macular dystrophy,21394,Disease,36547,Disorder,2
6043,11079,75382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382,Oguchi disease,21401,Malformation syndrome,36547,Disorder,2
6043,11080,75389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28552,566841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841,Liver adenomatosis,21394,Disease,36547,Disorder,1
6043,11081,75391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,21394,Disease,36547,Disorder,2
6043,11082,75392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392,Periodontal Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,11083,75496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11084,75497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497,X-linked Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,11086,75508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508,Angioosteohypotrophic syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,11087,75563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563,X-linked sideroblastic anemia,21394,Disease,36547,Disorder,2
6043,28560,566943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943,Mueller-Weiss syndrome,21394,Disease,36547,Disorder,2
6043,11089,75565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565,Tropical endomyocardial fibrosis,21394,Disease,36547,Disorder,1
6043,11088,75564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564,Acquired idiopathic sideroblastic anemia,21394,Disease,36547,Disorder,2
6043,11091,75567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567,Primary progressive freezing gait,21422,Clinical syndrome,36547,Disorder,1
6043,11090,75566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566,Loeffler endocarditis,21394,Disease,36547,Disorder,1
6043,11095,75857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857,6q terminal deletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11094,75840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840,"Congenital muscular dystrophy, Ullrich type",21394,Disease,36547,Disorder,2
6043,11097,77240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240,Primary lymphedema,36561,Category,36540,Group of disorders,1
6043,11096,75858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858,MORM syndrome,21394,Disease,36547,Disorder,1
6043,11101,77258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258,Trichorhinophalangeal syndrome type 1 and 3,21401,Malformation syndrome,36547,Disorder,2
6043,11103,77260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260,Gaucher disease type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11102,77259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259,Gaucher disease type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11047,73271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271,Bleeding diathesis due to a collagen receptor defect,21394,Disease,36547,Disorder,2
6043,11044,73263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73263,Zygomycosis,21394,Disease,36547,Disorder,1
6043,11045,73267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267,Non-24-hour sleep-wake syndrome,21394,Disease,36547,Disorder,1
6043,11042,73256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256,Central neurocytoma,21394,Disease,36547,Disorder,2
6043,11043,73260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260,Paracoccidioidomycosis,21394,Disease,36547,Disorder,1
6043,11040,73246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11041,73247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73247,Eosinophilic esophagitis,21394,Disease,36547,Disorder,10
6043,28655,569821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821,Congenital primary lymphedema of Gordon,21394,Disease,36547,Disorder,2
6043,11054,73423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423,Acute ackee fruit intoxication,21394,Disease,36547,Disorder,1
6043,28654,569816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816,CELSR1-related late-onset primary lymphedema,21394,Disease,36547,Disorder,2
6043,11050,73274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73274,Acquired hemophilia,21394,Disease,36547,Disorder,3
6043,11048,73272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272,Growth delay due to insulin-like growth factor type 1 deficiency,21394,Disease,36547,Disorder,2
6043,11049,73273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273,Growth delay due to insulin-like growth factor I resistance,21394,Disease,36547,Disorder,1
6043,11071,75326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326,Retinal arterial tortuosity,21394,Disease,36547,Disorder,2
6043,11070,75325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,21394,Disease,36547,Disorder,2
6043,11069,75249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249,Familial isolated restrictive cardiomyopathy,21394,Disease,36547,Disorder,1
6043,11068,75234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234,Cholesteryl ester storage disease,21450,Clinical subtype,36554,Subtype of disorder,3
6043,11067,75233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233,Wolman disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,28613,568065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065,EPHB4-related lymphatic-related hydrops fetalis,21394,Disease,36547,Disorder,2
6043,28612,568062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,21394,Disease,36547,Disorder,2
6043,11014,71493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493,Familial thrombocytosis,21394,Disease,36547,Disorder,1
6043,11015,71505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505,Cancer-associated retinopathy,21394,Disease,36547,Disorder,1
6043,28611,568056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,21394,Disease,36547,Disorder,2
6043,28610,568051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051,GJC2-related late-onset primary lymphedema,21394,Disease,36547,Disorder,1
6043,11011,71289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11020,71526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526,Obesity due to pro-opiomelanocortin deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,11021,71528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528,Obesity due to prohormone convertase I deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,11022,71529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529,Obesity due to melanocortin 4 receptor deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,28622,569164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164,Angiomatoid fibrous histiocytoma,21394,Disease,36547,Disorder,1
6043,11017,71517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517,Rapid-onset dystonia-parkinsonism,21394,Disease,36547,Disorder,2
6043,11018,71518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518,Benign paroxysmal torticollis of infancy,21394,Disease,36547,Disorder,2
6043,11019,71519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519,Psychogenic movement disorders,21422,Clinical syndrome,36547,Disorder,1
6043,28629,569274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274,Multiple mitochondrial dysfunctions syndrome type 5,21394,Disease,36547,Disorder,2
6043,28631,569290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290,Multiple mitochondrial dysfunctions syndrome type 6,21394,Disease,36547,Disorder,2
6043,28626,569248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248,Microcystic stromal tumor,21394,Disease,36547,Disorder,1
6043,11037,73229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229,HANAC syndrome,21394,Disease,36547,Disorder,2
6043,11036,73224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224,Tubular renal disease-cardiomyopathy syndrome,21394,Disease,36547,Disorder,2
6043,11039,73245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11038,73230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230,Ossification anomalies-psychomotor developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,11033,73217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217,Müllerian aplasia,21436,Clinical group,36540,Group of disorders,3
6043,11035,73223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223,Global developmental delay-osteopenia-ectodermal defect syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11034,73220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73220,X-linked intellectual disability-hypotonic face syndrome,21436,Clinical group,36540,Group of disorders,1
6043,10462,40366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366,Acitretin/etretinate embryopathy,21401,Malformation syndrome,36547,Disorder,2
6043,10463,40923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923,Eales disease,21394,Disease,36547,Disorder,1
6043,10460,39812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812,Graft versus host disease,21394,Disease,36547,Disorder,1
6043,27672,530849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849,Familial apolipoprotein A5 deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10452,39041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041,Omenn syndrome,21394,Disease,36547,Disorder,2
6043,27669,530838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838,KRT1-related diffuse nonepidermolytic keratoderma,21394,Disease,36547,Disorder,1
6043,10453,39044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044,Uveal melanoma,21394,Disease,36547,Disorder,4
6043,27668,530792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792,RELA fusion-positive ependymoma,21394,Disease,36547,Disorder,1
6043,10451,38874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874,Dihydropyrimidinuria,21394,Disease,36547,Disorder,1
6043,10447,37748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748,Schnitzler syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10444,37612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612,Episodic ataxia type 1,21394,Disease,36547,Disorder,1
6043,10442,37553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553,Andersen-Tawil syndrome,21394,Disease,36547,Disorder,4
6043,10441,37202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202,Interstitial cystitis,21394,Disease,36547,Disorder,4
6043,10440,37042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,21394,Disease,36547,Disorder,2
6043,10437,36899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899,Myoclonus-dystonia syndrome,21394,Disease,36547,Disorder,1
6043,27690,531151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151,9q21.13 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27685,530983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983,Lamb-Shaffer syndrome,21394,Disease,36547,Disorder,2
6043,27686,530995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995,Mixed phenotype acute leukemia,21394,Disease,36547,Disorder,1
6043,10464,41751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751,Bietti crystalline dystrophy,21394,Disease,36547,Disorder,1
6043,10466,42062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062,Iminoglycinuria,21394,Disease,36547,Disorder,2
6043,10394,35705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705,Neurometabolic disorder due to serine deficiency,36561,Category,36540,Group of disorders,2
6043,10395,35706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706,Glutaric acidemia type 3,21394,Disease,36547,Disorder,1
6043,10393,35704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704,L-Arginine:glycine amidinotransferase deficiency,21394,Disease,36547,Disorder,2
6043,10398,35710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710,Glucose-galactose malabsorption,21394,Disease,36547,Disorder,2
6043,10399,35737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737,Morning glory disc anomaly,21415,Morphological anomaly,36547,Disorder,1
6043,10397,35708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708,Aromatic L-amino acid decarboxylase deficiency,21394,Disease,36547,Disorder,2
6043,10385,35689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689,Primary lateral sclerosis,21394,Disease,36547,Disorder,1
6043,10391,35701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,21394,Disease,36547,Disorder,2
6043,10388,35698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698,Mitochondrial DNA depletion syndrome,36561,Category,36540,Group of disorders,1
6043,10378,35612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612,Nanophthalmos,21401,Malformation syndrome,36547,Disorder,1
6043,10376,35173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173,X-linked dominant chondrodysplasia punctata,21394,Disease,36547,Disorder,2
6043,10383,35687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687,Erdheim-Chester disease,21394,Disease,36547,Disorder,2
6043,10381,35664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664,ALDH18A1-related De Barsy syndrome,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10380,35656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656,Coenzyme Q10 deficiency,21436,Clinical group,36540,Group of disorders,1
6043,10370,35107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107,Desmosterolosis,21394,Disease,36547,Disorder,2
6043,10368,35098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35098,Isolated plagiocephaly,21415,Morphological anomaly,36547,Disorder,1
6043,10375,35125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125,Epidermal nevus syndrome,21394,Disease,36547,Disorder,2
6043,10373,35122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122,Congenital sucrase-isomaltase deficiency,21394,Disease,36547,Disorder,1
6043,10372,35121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121,Lysosomal acid phosphatase deficiency,21394,Disease,36547,Disorder,1
6043,10424,36387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387,Generalized epilepsy with febrile seizures-plus,21394,Disease,36547,Disorder,1
6043,10425,36388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36388,Paraneoplastic neurologic syndrome,36561,Category,36540,Group of disorders,1
6043,10426,36397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397,Adiposis dolorosa,21394,Disease,36547,Disorder,1
6043,10428,36412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412,Hypocomplementemic urticarial vasculitis,21394,Disease,36547,Disorder,2
6043,10430,36426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426,Stevens-Johnson syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,10417,36355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355,Bleeding disorder due to P2Y12 defect,21394,Disease,36547,Disorder,2
6043,10423,36386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386,Hereditary sensory and autonomic neuropathy type 1,21394,Disease,36547,Disorder,1
6043,10409,36234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36234,Bacterial toxic-shock syndrome,21394,Disease,36547,Disorder,1
6043,10411,36236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36236,Staphylococcal scalded skin syndrome,21394,Disease,36547,Disorder,2
6043,10413,36238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238,Staphylococcal necrotizing pneumonia,21394,Disease,36547,Disorder,1
6043,10412,36237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237,Bullous impetigo,21394,Disease,36547,Disorder,1
6043,10415,36273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273,Gastric linitis plastica,21394,Disease,36547,Disorder,1
6043,10414,36258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258,Buerger disease,21394,Disease,36547,Disorder,2
6043,10401,35808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808,Malignant sex cord stromal tumor of ovary,36561,Category,36540,Group of disorders,27
6043,10400,35807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807,Malignant germ cell tumor of ovary,36561,Category,36540,Group of disorders,27
6043,10403,35878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878,Hyperinsulinism-hyperammonemia syndrome,21394,Disease,36547,Disorder,1
6043,10402,35858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858,Imerslund-Gräsbeck syndrome,21394,Disease,36547,Disorder,3
6043,10405,35909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909,Combined deficiency of factor V and factor VIII,21394,Disease,36547,Disorder,2
6043,10404,35889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35889,Acute opioid poisoning,21394,Disease,36547,Disorder,1
6043,10407,36204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204,Intestinal lymphangiectasia,21436,Clinical group,36540,Group of disorders,1
6043,10406,35981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981,Polymicrogyria,21436,Clinical group,36540,Group of disorders,1
6043,10327,33572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572,5-oxoprolinase deficiency,21394,Disease,36547,Disorder,2
6043,10326,33543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543,Kleine-Levin syndrome,21394,Disease,36547,Disorder,2
6043,10324,33475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475,Meningococcal meningitis,21394,Disease,36547,Disorder,4
6043,10323,33445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445,Neuroectodermal melanolysosomal disease,21401,Malformation syndrome,36547,Disorder,2
6043,10321,33408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408,Bullous lichen planus,21394,Disease,36547,Disorder,1
6043,27792,535458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458,Familial GPIHBP1 deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10320,33402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402,Pediatric hepatocellular carcinoma,21394,Disease,36547,Disorder,3
6043,10332,34149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149,Autosomal dominant tubulointerstitial kidney disease,21394,Disease,36547,Disorder,2
6043,10330,33577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577,Nodular non-suppurative panniculitis,21394,Disease,36547,Disorder,1
6043,10329,33574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574,Glutamate-cysteine ligase deficiency,21394,Disease,36547,Disorder,2
6043,10328,33573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573,Gamma-glutamyl transpeptidase deficiency,21394,Disease,36547,Disorder,2
6043,10310,33110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110,Autosomal agammaglobulinemia,21450,Clinical subtype,36554,Subtype of disorder,2
6043,10311,33111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111,Granulomatous slack skin,21394,Disease,36547,Disorder,2
6043,10308,33108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108,Lethal multiple pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10306,33067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067,"Metaphyseal chondrodysplasia, Jansen type",21394,Disease,36547,Disorder,2
6043,10307,33069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069,Dravet syndrome,21394,Disease,36547,Disorder,3
6043,10305,33001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001,Lymphedema-distichiasis syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,10318,33355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355,Reticular dysgenesis,21394,Disease,36547,Disorder,2
6043,27791,535453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453,Familial lipase maturation factor 1 deficiency,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10319,33364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364,Trichothiodystrophy,21394,Disease,36547,Disorder,3
6043,10316,33276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276,Kaposi sarcoma,21394,Disease,36547,Disorder,26
6043,10317,33314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314,Jessner lymphocytic infiltration of the skin,21394,Disease,36547,Disorder,1
6043,10312,33208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208,Idiopathic hypersomnia,21394,Disease,36547,Disorder,2
6043,10313,33226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226,Waldenström macroglobulinemia,21394,Disease,36547,Disorder,7
6043,10365,35069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069,Infantile neuroaxonal dystrophy,21394,Disease,36547,Disorder,2
6043,10366,35078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,21394,Disease,36547,Disorder,1
6043,10360,35062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35062,Idiopathic disseminated cytomegalovirus infection,21394,Disease,36547,Disorder,1
6043,10342,34520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,21394,Disease,36547,Disorder,1
6043,10336,34514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514,Telethonin-related  limb-girdle muscular dystrophy R7,21394,Disease,36547,Disorder,2
6043,10337,34515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515,FKRP-related  limb-girdle muscular dystrophy R9,21394,Disease,36547,Disorder,4
6043,10338,34516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516,DNAJB6-related  limb-girdle muscular dystrophy D1,21394,Disease,36547,Disorder,2
6043,10348,34587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587,Glycogen storage disease due to LAMP-2 deficiency,21394,Disease,36547,Disorder,3
6043,10349,34592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592,Immunodeficiency by defective expression of MHC class I,21394,Disease,36547,Disorder,2
6043,10344,34526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34526,Genetic primary hypomagnesemia,36561,Category,36540,Group of disorders,2
6043,10345,34527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34527,Familial primary hypomagnesemia with normocalciuria and normocalcemia,21394,Disease,36547,Disorder,2
6043,10346,34528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,21394,Disease,36547,Disorder,2
6043,10347,34533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533,Corneal dystrophy,36561,Category,36540,Group of disorders,2
6043,27851,536516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516,Myopathic Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,27850,536471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471,Spondylodysplastic Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,2
6043,27849,536467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,27853,536545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545,Kyphoscoliotic Ehlers-Danlos syndrome,21394,Disease,36547,Disorder,1
6043,27852,536532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532,Classical-like Ehlers-Danlos syndrome type 2,21394,Disease,36547,Disorder,2
6043,27892,537072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072,PLG-related hereditary angioedema with normal C1Inh,21443,Etiological subtype,36554,Subtype of disorder,2
6043,10303,32960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960,Tumor necrosis factor receptor 1 associated periodic syndrome,21394,Disease,36547,Disorder,2
6043,10700,52530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530,Pseudo-von Willebrand disease,21394,Disease,36547,Disorder,2
6043,10703,52688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688,Myelodysplastic syndrome,21436,Clinical group,36540,Group of disorders,17
6043,27912,537891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537891,ANGPT1-related hereditary angioedema with normal C1Inh,21443,Etiological subtype,36554,Subtype of disorder,2
6043,27913,538096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,21394,Disease,36547,Disorder,1
6043,10699,52503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503,X-linked creatine transporter deficiency,21394,Disease,36547,Disorder,2
6043,27914,538101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101,Congenital axonal neuropathy with encephalopathy,21394,Disease,36547,Disorder,2
6043,10698,52430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,21394,Disease,36547,Disorder,2
6043,10693,52416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416,Mantle cell lymphoma,21394,Disease,36547,Disorder,3
6043,10695,52427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427,Retinitis punctata albescens,21394,Disease,36547,Disorder,2
6043,10694,52417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417,MALT lymphoma,21394,Disease,36547,Disorder,3
6043,10689,52056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056,Ulnar/fibula ray defect-brachydactyly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10688,52055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10691,52368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368,Mohr-Tranebjaerg syndrome,21394,Disease,36547,Disorder,2
6043,10716,53271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271,Muenke syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10718,53296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296,Familial cutaneous collagenoma,21394,Disease,36547,Disorder,2
6043,10719,53347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347,Brody myopathy,21394,Disease,36547,Disorder,1
6043,10714,52994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994,Orbital leiomyoma,21394,Disease,36547,Disorder,2
6043,10715,53035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035,Caroli disease,21401,Malformation syndrome,36547,Disorder,2
6043,10704,52759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52759,Vasculitis,36561,Category,36540,Group of disorders,1
6043,10706,52901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901,Isolated follicle stimulating hormone deficiency,21394,Disease,36547,Disorder,1
6043,27951,538863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863,Classic pyoderma gangrenosum,21450,Clinical subtype,36554,Subtype of disorder,2
6043,27945,538756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756,Familial multiple discoid fibromas,21394,Disease,36547,Disorder,2
6043,27942,538574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,21394,Disease,36547,Disorder,2
6043,10724,53583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,21394,Disease,36547,Disorder,2
6043,10723,53540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540,Goldmann-Favre syndrome,21394,Disease,36547,Disorder,2
6043,10721,53372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372,Hereditary geniospasm,21394,Disease,36547,Disorder,1
6043,10720,53351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351,X-linked dystonia-parkinsonism,21394,Disease,36547,Disorder,2
6043,10748,54247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247,Posterior cortical atrophy,21394,Disease,36547,Disorder,1
6043,27964,538934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934,X-linked lymphoproliferative disease due to XIAP deficiency,21394,Disease,36547,Disorder,2
6043,10749,54251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251,Corticosteroid-sensitive aseptic abscess syndrome,21394,Disease,36547,Disorder,2
6043,27963,538931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931,X-linked lymphoproliferative disease due to SH2D1A deficiency,21394,Disease,36547,Disorder,2
6043,10746,54057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057,Thrombotic thrombocytopenic purpura,21394,Disease,36547,Disorder,4
6043,10745,54028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028,Plummer-Vinson syndrome,21394,Disease,36547,Disorder,2
6043,10742,53719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719,Wyburn-Mason syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10743,53721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721,Spinal arteriovenous metameric syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10741,53715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715,Familial tumoral calcinosis,21394,Disease,36547,Disorder,1
6043,10738,53696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696,Arthrogryposis-anterior horn cell disease syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27954,538872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872,Vegetative pyoderma gangrenosum,21450,Clinical subtype,36554,Subtype of disorder,2
6043,10739,53697,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697,Gnathodiaphyseal dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,27953,538869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869,Bullous pyoderma gangrenosum,21450,Clinical subtype,36554,Subtype of disorder,2
6043,27952,538866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866,Pustular pyoderma gangrenosum,21450,Clinical subtype,36554,Subtype of disorder,2
6043,10737,53693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693,GRACILE syndrome,21394,Disease,36547,Disorder,3
6043,10633,48818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818,Aceruloplasminemia,21394,Disease,36547,Disorder,2
6043,10637,49041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041,IgG4-related retroperitoneal fibrosis,21394,Disease,36547,Disorder,3
6043,10636,48918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918,Focal myositis,21394,Disease,36547,Disorder,2
6043,10639,49382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382,Achromatopsia,21394,Disease,36547,Disorder,1
6043,10638,49042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042,Dentinogenesis imperfecta,21394,Disease,36547,Disorder,1
6043,27968,538958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958,Combined immunodeficiency due to CD70 deficiency,21394,Disease,36547,Disorder,2
6043,10625,48431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27969,538963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963,Combined immunodeficiency due to ITK deficiency,21394,Disease,36547,Disorder,2
6043,10626,48435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435,Postinfectious vasculitis,21394,Disease,36547,Disorder,1
6043,10631,48686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686,Primary effusion lymphoma,21394,Disease,36547,Disorder,2
6043,10630,48652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652,Monosomy 22q13.3,21401,Malformation syndrome,36547,Disorder,2
6043,10648,50809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809,Talo-patello-scaphoid osteolysis,21401,Malformation syndrome,36547,Disorder,2
6043,10649,50810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810,Microlissencephaly-micromelia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10650,50811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811,Lipodystrophy-intellectual disability-deafness syndrome,21394,Disease,36547,Disorder,2
6043,10651,50812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812,Zellweger-like syndrome without peroxisomal anomalies,21394,Disease,36547,Disorder,2
6043,10653,50814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814,Craniolenticulosutural dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,10654,50815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815,Branchiogenic deafness syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10643,49827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827,Thiamine-responsive megaloblastic anemia syndrome,21394,Disease,36547,Disorder,2
6043,10645,50251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251,Pleural mesothelioma,21394,Disease,36547,Disorder,3
6043,10665,50945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945,Blomstrand lethal chondrodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,10664,50944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944,Schöpf-Schulz-Passarge syndrome,21394,Disease,36547,Disorder,2
6043,10670,51083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083,Familial short QT syndrome,21394,Disease,36547,Disorder,2
6043,10658,50839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50839,Cat-scratch disease,21394,Disease,36547,Disorder,1
6043,10656,50817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817,Duane anomaly-myopathy-scoliosis syndrome,21394,Disease,36547,Disorder,2
6043,10660,50918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918,Kikuchi-Fujimoto disease,21394,Disease,36547,Disorder,3
6043,10687,52054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054,Craniosynostosis-intracranial calcifications syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10684,52022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022,Potocki-Shaffer syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10685,52047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047,Braddock syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10674,51577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577,Cobblestone lissencephaly,21436,Clinical group,36540,Group of disorders,2
6043,10675,51608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608,Generalized arterial calcification of infancy,21394,Disease,36547,Disorder,2
6043,10672,51188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188,Ethylmalonic encephalopathy,21394,Disease,36547,Disorder,2
6043,28017,541423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423,Growth delay-intellectual disability-hepatopathy syndrome,21394,Disease,36547,Disorder,2
6043,10673,51208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208,Formiminoglutamic aciduria,21394,Disease,36547,Disorder,1
6043,10676,51636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636,WHIM syndrome,21394,Disease,36547,Disorder,3
6043,10677,51890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890,Anterior cutaneous nerve entrapment syndrome,21394,Disease,36547,Disorder,2
6043,28037,542306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,21394,Disease,36547,Disorder,2
6043,28036,542301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301,Severe combined immunodeficiency due to CARMIL2 deficiency,21394,Disease,36547,Disorder,2
6043,28038,542310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310,Leukoencephalopathy with calcifications and cysts,21394,Disease,36547,Disorder,2
6043,10573,42642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642,PFAPA syndrome,21394,Disease,36547,Disorder,2
6043,10575,42665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665,Tietz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28040,542323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323,CAR T cell therapy-associated cytokine release syndrome,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,10581,43117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117,Acute tricyclic antidepressant poisoning,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,28052,542585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585,Auditory neuropathy-optic atrophy syndrome,21394,Disease,36547,Disorder,2
6043,10580,43116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116,Serotonin syndrome,21394,Disease,36547,Disorder,1
6043,28053,542592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592,Necrobiosis lipoidica,21394,Disease,36547,Disorder,1
6043,10583,43393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393,Lambert-Eaton myasthenic syndrome,21394,Disease,36547,Disorder,3
6043,10582,43119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119,Acute poisoning by drugs with membrane-stabilizing effect,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,28055,542643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643,Livedoid vasculopathy,21422,Clinical syndrome,36547,Disorder,2
6043,10577,42775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775,PHACE syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10576,42738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738,Severe congenital neutropenia,21436,Clinical group,36540,Group of disorders,7
6043,10579,43115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,21394,Disease,36547,Disorder,2
6043,10589,45448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448,Miyoshi myopathy,21394,Disease,36547,Disorder,3
6043,28061,543470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,10591,45453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453,Incessant infant ventricular tachycardia,21394,Disease,36547,Disorder,4
6043,10590,45452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452,Idiopathic neonatal atrial flutter,21394,Disease,36547,Disorder,3
6043,28056,542657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657,Isolated hyperchlorhidrosis,21394,Disease,36547,Disorder,2
6043,10584,44890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890,Gastrointestinal stromal tumor,21394,Disease,36547,Disorder,8
6043,10586,45358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358,Congenital fibrosis of extraocular muscles,21394,Disease,36547,Disorder,2
6043,10598,46487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487,Epidermolysis bullosa acquisita,21394,Disease,36547,Disorder,7
6043,28070,544254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254,SYNGAP1-related developmental and epileptic encephalopathy,21394,Disease,36547,Disorder,2
6043,10599,46488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488,Linear IgA dermatosis,21394,Disease,36547,Disorder,3
6043,10596,46485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485,Superficial pemphigus,21436,Clinical group,36540,Group of disorders,1
6043,10597,46486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486,Mucous membrane pemphigoid,21394,Disease,36547,Disorder,4
6043,10594,46348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348,Paroxysmal extreme pain disorder,21394,Disease,36547,Disorder,2
6043,10595,46484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484,Oligodendroglial tumor,21436,Clinical group,36540,Group of disorders,3
6043,10592,46059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059,Lathosterolosis,21394,Disease,36547,Disorder,2
6043,10593,46135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135,Primary central nervous system lymphoma,21394,Disease,36547,Disorder,2
6043,10604,46724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724,Cerebral arteriovenous malformation,21415,Morphological anomaly,36547,Disorder,1
6043,10602,46627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627,Char syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,10601,46532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,21394,Disease,36547,Disorder,1
6043,10615,48372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372,Nodular regenerative hyperplasia of the liver,21394,Disease,36547,Disorder,3
6043,10614,48162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162,Lewis-Sumner syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28084,544493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493,Streptococcus pneumoniae-associated hemolytic uremic syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,10613,48104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104,Pyoderma gangrenosum,21394,Disease,36547,Disorder,6
6043,28085,544503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503,RNF13-related severe early-onset epileptic encephalopathy,21394,Disease,36547,Disorder,2
6043,10611,47612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612,Felty syndrome,21394,Disease,36547,Disorder,1
6043,28082,544482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482,Infection-related hemolytic uremic syndrome,21394,Disease,36547,Disorder,1
6043,10610,47159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159,Proximal renal tubular acidosis,21394,Disease,36547,Disorder,1
6043,28083,544488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,21394,Disease,36547,Disorder,2
6043,28080,544469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469,PRUNE1-related neurological syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28081,544472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472,Atypical hemolytic uremic syndrome with complement gene abnormality,21443,Etiological subtype,36554,Subtype of disorder,1
6043,10608,47045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045,Familial cold urticaria,21394,Disease,36547,Disorder,2
6043,28092,544628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,21394,Disease,36547,Disorder,2
6043,28091,544602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602,Congenital myopathy with reduced type 2 muscle fibers,21394,Disease,36547,Disorder,2
6043,10616,48377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377,Subcorneal pustular dermatosis,21394,Disease,36547,Disorder,2
6043,28089,544578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578,"Congenital primary megaureter, refluxing and obstructed form",21450,Clinical subtype,36554,Subtype of disorder,1
6043,28103,555402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402,NAD(P)HX dehydratase deficiency,21394,Disease,36547,Disorder,2
6043,28105,555434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434,Fibrohistiocytic inflammatory pseudotumor of the liver,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28104,555407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407,NAD(P)HX epimerase deficiency,21394,Disease,36547,Disorder,2
6043,10507,68367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367,Rare inborn errors of metabolism,36561,Category,36540,Group of disorders,1
6043,28106,555437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437,Lymphoplasmacytic inflammatory pseudotumor of the liver,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28118,555874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874,Congenital tricuspid valve dysplasia,21415,Morphological anomaly,36547,Disorder,1
6043,28119,555877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877,FLNA-related X-linked myxomatous valvular dysplasia,21415,Morphological anomaly,36547,Disorder,1
6043,28120,555905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905,IgA pemphigus,21394,Disease,36547,Disorder,1
6043,28123,556030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030,Early-onset familial hypoaldosteronism,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28124,556037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037,Late-onset familial hypoaldosteronism,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28139,556985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,21394,Disease,36547,Disorder,2
6043,28138,556955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955,Pancreatic agenesis-holoprosencephaly syndrome,21394,Disease,36547,Disorder,2
6043,28142,557064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,21394,Disease,36547,Disorder,2
6043,28141,557056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056,Spastic ataxia-dysarthria due to glutaminase deficiency,21394,Disease,36547,Disorder,2
6043,28140,557003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003,Oculocerebrodental syndrome,21394,Disease,36547,Disorder,2
6043,11956,90065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065,Acquired aneurysmal subarachnoid hemorrhage,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11957,90066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066,Pneumonia caused by Pseudomonas aeruginosa infection,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11959,90068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068,Cocaine intoxication,21394,Disease,36547,Disorder,1
6043,11952,90061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90061,Non-infectious posterior uveitis,36561,Category,36540,Group of disorders,1
6043,11953,90062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062,Acute liver failure,21422,Clinical syndrome,36547,Disorder,1
6043,27251,519388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388,Autosomal recessive anterior segment dysgenesis,21401,Malformation syndrome,36547,Disorder,2
6043,11955,90064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064,Acute peripheral arterial occlusion,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11964,90073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073,Hepatitis B reinfection following liver transplantation,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11967,90076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076,Partial deep dermal and full thickness burns,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11960,90069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069,Systemic monochloroacetate poisoning,21394,Disease,36547,Disorder,1
6043,11941,90050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050,Retinopathy of prematurity,21394,Disease,36547,Disorder,1
6043,11940,90045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045,Hereditary folate malabsorption,21394,Disease,36547,Disorder,2
6043,11943,90052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11942,90051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051,Sepsis in premature infants,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11937,90041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041,Gaisböck syndrome,21394,Disease,36547,Disorder,1
6043,11936,90039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039,Hemoglobin D disease,21394,Disease,36547,Disorder,1
6043,11939,90044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044,Familial pseudohyperkalemia,21394,Disease,36547,Disorder,1
6043,11938,90042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042,Primary familial polycythemia,21394,Disease,36547,Disorder,1
6043,11949,90058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058,Spinal cord injury,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,2
6043,11951,90060,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060,Diffuse alveolar hemorrhage,21422,Clinical syndrome,36547,Disorder,1
6043,11950,90059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059,Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11944,90053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053,Complications after hematopoietic stem cell transplantation,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11947,90056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056,Moderate and severe traumatic brain injury,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11926,90024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",21401,Malformation syndrome,36547,Disorder,2
6043,11925,90023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023,Primary immunodeficiency syndrome due to LAMTOR2 deficiency,21394,Disease,36547,Disorder,2
6043,11921,90003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003,Inflammatory pseudotumor of the liver,21394,Disease,36547,Disorder,2
6043,11934,90037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037,Drug-induced autoimmune hemolytic anemia,21394,Disease,36547,Disorder,1
6043,11935,90038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038,Shiga toxin-associated hemolytic uremic syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11932,90035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035,Paroxysmal cold hemoglobinuria,21394,Disease,36547,Disorder,1
6043,11933,90036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036,Mixed-type autoimmune hemolytic anemia,21394,Disease,36547,Disorder,1
6043,11930,90031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,21394,Disease,36547,Disorder,2
6043,11931,90033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033,"Autoimmune hemolytic anemia, warm type",21394,Disease,36547,Disorder,1
6043,11928,90026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026,Primary erythromelalgia,21394,Disease,36547,Disorder,2
6043,11929,90030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030,Hemolytic anemia due to glutathione reductase deficiency,21394,Disease,36547,Disorder,2
6043,11911,89936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936,X-linked hypophosphatemia,21394,Disease,36547,Disorder,3
6043,11909,89844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844,"Lissencephaly syndrome, Norman-Roberts type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,11908,89843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843,Dystrophic epidermolysis bullosa pruriginosa,21394,Disease,36547,Disorder,2
6043,11907,89842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842,"Recessive dystrophic epidermolysis bullosa, generalized intermediate",21394,Disease,36547,Disorder,1
6043,11906,89841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89841,Centripetalis recessive dystrophic epidermolysis bullosa,21394,Disease,36547,Disorder,2
6043,11905,89840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89840,"Junctional epidermolysis bullosa, non-Herlitz type",21394,Disease,36547,Disorder,1
6043,11904,89839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89839,Epidermolysis bullosa simplex superficialis,21394,Disease,36547,Disorder,1
6043,11919,90001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001,X-linked cone dysfunction syndrome with myopia,21394,Disease,36547,Disorder,2
6043,11918,90000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000,Erythema elevatum diutinum,21394,Disease,36547,Disorder,1
6043,11913,89938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938,Infantile Bartter syndrome with sensorineural deafness,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11912,89937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937,Autosomal dominant hypophosphatemic rickets,21394,Disease,36547,Disorder,2
6043,12018,90340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340,Blau syndrome,21394,Disease,36547,Disorder,2
6043,12020,90342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342,Xeroderma pigmentosum variant,21394,Disease,36547,Disorder,2
6043,12024,90348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348,Autosomal dominant cutis laxa,21394,Disease,36547,Disorder,2
6043,12025,90349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349,Autosomal recessive cutis laxa type 1,21394,Disease,36547,Disorder,2
6043,12026,90350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350,Autosomal recessive cutis laxa type 2,21436,Clinical group,36540,Group of disorders,2
6043,12028,90354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354,Brittle cornea syndrome,21394,Disease,36547,Disorder,2
6043,12030,90362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362,Primary intestinal lymphangiectasia,21394,Disease,36547,Disorder,1
6043,12000,90289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289,Localized scleroderma,21394,Disease,36547,Disorder,1
6043,12003,90301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,21394,Disease,36547,Disorder,2
6043,12002,90291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291,Systemic sclerosis,21394,Disease,36547,Disorder,15
6043,12005,90308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308,Klippel-Trénaunay syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11994,90280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280,Chilblain lupus,21394,Disease,36547,Disorder,2
6043,11995,90281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281,Discoid lupus erythematosus,21394,Disease,36547,Disorder,2
6043,11993,90186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186,Meige disease,21394,Disease,36547,Disorder,1
6043,11998,90285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285,Lupus erythematosus panniculitis,21394,Disease,36547,Disorder,1
6043,11997,90283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283,Lupus erythematosus tumidus,21394,Disease,36547,Disorder,2
6043,11971,90080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080,Scarring in glaucoma filtration surgical procedures,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11969,90078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078,Invasive infections due to vancomycin-resistant enterococci,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11973,90103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27140,514980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980,ATP13A2-related parkinsonism,21436,Clinical group,36540,Group of disorders,1
6043,11972,90081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081,AIDS wasting syndrome,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,11978,90117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117,"Hereditary motor and sensory neuropathy, Okinawa type",21394,Disease,36547,Disorder,2
6043,11977,90114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114,Autosomal dominant intermediate Charcot-Marie-Tooth disease,21436,Clinical group,36540,Group of disorders,1
6043,11824,88673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673,Hepatocellular carcinoma,21436,Clinical group,36540,Group of disorders,34
6043,11820,88644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644,"Autosomal recessive ataxia, Beauce type",21394,Disease,36547,Disorder,2
6043,11821,88659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659,Autosomal dominant progressive nephropathy with hypertension,21394,Disease,36547,Disorder,2
6043,11823,88661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661,Amelogenesis imperfecta,21394,Disease,36547,Disorder,4
6043,11816,88637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11817,88639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,21394,Disease,36547,Disorder,2
6043,11818,88642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642,Channelopathy-associated congenital insensitivity to pain,21394,Disease,36547,Disorder,2
6043,11819,88643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,11814,88635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,21394,Disease,36547,Disorder,2
6043,11808,88621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621,Ichthyosis-prematurity syndrome,21394,Disease,36547,Disorder,2
6043,11809,88628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628,Posterior column ataxia-retinitis pigmentosa syndrome,21394,Disease,36547,Disorder,2
6043,11810,88629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629,Tritanopia,21394,Disease,36547,Disorder,1
6043,11811,88630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630,Terminal osseous dysplasia-pigmentary defects syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,11807,88620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620,Isolated congenital anosmia,21394,Disease,36547,Disorder,2
6043,11806,88619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619,Familial acute necrotizing encephalopathy,21394,Disease,36547,Disorder,2
6043,11805,88618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618,Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency,21394,Disease,36547,Disorder,2
6043,11802,87884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884,Non-syndromic genetic deafness,21394,Disease,36547,Disorder,1
6043,11801,87876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876,Sialidosis type 2,21394,Disease,36547,Disorder,2
6043,11800,87503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503,Mal de Meleda,21394,Disease,36547,Disorder,1
6043,11796,86923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86923,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type",21394,Disease,36547,Disorder,1
6043,11793,86920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920,Dermatopathia pigmentosa reticularis,21394,Disease,36547,Disorder,2
6043,11792,86919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919,Keratosis palmaris et plantaris-clinodactyly syndrome,21394,Disease,36547,Disorder,2
6043,11791,86918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,21394,Disease,36547,Disorder,2
6043,11788,86915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915,Lymphedema-atrial septal defects-facial changes syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27340,522077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,11786,86913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913,Myoclonic epilepsy in non-progressive encephalopathies,21401,Malformation syndrome,36547,Disorder,1
6043,11787,86914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914,Lymphedema-cerebral arteriovenous anomaly syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11784,86909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909,Myoclonic epilepsy of infancy,21394,Disease,36547,Disorder,2
6043,27333,521450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450,LAMA5-related multisystemic syndrome,21394,Disease,36547,Disorder,2
6043,27332,521445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27331,521438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438,Congenital vertebral-cardiac-renal anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11778,86900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900,Interdigitating dendritic cell sarcoma,21394,Disease,36547,Disorder,1
6043,27330,521432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,21394,Disease,36547,Disorder,2
6043,11779,86902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902,Follicular dendritic cell sarcoma,21394,Disease,36547,Disorder,1
6043,27329,521426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426,PLAA-associated neurodevelopmental disorder,21401,Malformation syndrome,36547,Disorder,2
6043,11776,86896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896,Histiocytic sarcoma,21394,Disease,36547,Disorder,1
6043,27328,521414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,21394,Disease,36547,Disorder,2
6043,27320,521258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258,Xq25 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27322,521305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305,Proximal myopathy with focal depletion of mitochondria,21394,Disease,36547,Disorder,2
6043,27323,521308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27324,521390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27326,521406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406,Dystonia-parkinsonism-hypermanganesemia syndrome,21394,Disease,36547,Disorder,2
6043,11903,89838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838,"Epidermolysis bullosa simplex, autosomal recessive K14",21394,Disease,36547,Disorder,2
6043,27327,521411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,21394,Disease,36547,Disorder,2
6043,27317,521219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219,Mirizzi syndrome,21422,Clinical syndrome,36547,Disorder,1
6043,11882,88950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11884,88991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991,Rare congenital non-syndromic heart malformation,36561,Category,36540,Group of disorders,2
6043,11856,88924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,21394,Disease,36547,Disorder,2
6043,11849,88917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917,X-linked Alport syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12199,93256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256,Fragile X-associated tremor/ataxia syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,27494,528105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,21394,Disease,36547,Disorder,2
6043,27492,528091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,21394,Disease,36547,Disorder,2
6043,27491,528084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084,Non-specific syndromic intellectual disability,21394,Disease,36547,Disorder,1
6043,12205,93262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262,Crouzon syndrome-acanthosis nigricans syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12203,93260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260,Pfeiffer syndrome type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12202,93259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259,Pfeiffer syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12201,93258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258,Pfeiffer syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12214,93271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",21401,Malformation syndrome,36547,Disorder,1
6043,12212,93269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269,"Short rib-polydactyly syndrome, Majewski type",21401,Malformation syndrome,36547,Disorder,2
6043,12210,93267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267,Cloverleaf skull-multiple congenital anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12222,93282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",21394,Disease,36547,Disorder,2
6043,12223,93283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283,"Spondyloepiphyseal dysplasia, Kimberley type",21394,Disease,36547,Disorder,2
6043,12220,93279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,21394,Disease,36547,Disorder,2
6043,12216,93274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274,Thanatophoric dysplasia type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12165,93108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108,Renal dysplasia,21415,Morphological anomaly,36547,Disorder,2
6043,27460,527497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,21394,Disease,36547,Disorder,2
6043,12164,93101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101,Renal hypoplasia,21415,Morphological anomaly,36547,Disorder,1
6043,12167,93110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110,Posterior urethral valve,21415,Morphological anomaly,36547,Disorder,3
6043,12166,93109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109,Congenital megacalycosis,21415,Morphological anomaly,36547,Disorder,2
6043,27457,527450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450,Severe myopia-generalized joint laxity-short stature syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12160,91547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91547,Relapsing fever,21394,Disease,36547,Disorder,1
6043,12163,93100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100,"Renal agenesis, unilateral",21450,Clinical subtype,36554,Subtype of disorder,2
6043,27458,527468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468,Diaphragmatic hernia-short bowel-asplenia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12162,92050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050,Congenital tufting enteropathy,21394,Disease,36547,Disorder,2
6043,12173,93160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160,Hypocalcemic vitamin D-resistant rickets,21394,Disease,36547,Disorder,1
6043,12169,93114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,21394,Disease,36547,Disorder,2
6043,12168,93111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12170,93126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126,Pauci-immune glomerulonephritis,21394,Disease,36547,Disorder,1
6043,12177,93172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172,"Renal dysplasia, unilateral",21450,Clinical subtype,36554,Subtype of disorder,2
6043,12178,93173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173,"Renal dysplasia, bilateral",21450,Clinical subtype,36554,Subtype of disorder,1
6043,12259,93322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322,Tibial hemimelia,21415,Morphological anomaly,36547,Disorder,1
6043,12258,93321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321,Radial hemimelia,21415,Morphological anomaly,36547,Disorder,1
6043,12257,93320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320,Ulnar hemimelia,21415,Morphological anomaly,36547,Disorder,1
6043,12260,93323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323,Fibular hemimelia,21415,Morphological anomaly,36547,Disorder,1
6043,12265,93329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329,Autosomal recessive omodysplasia,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12270,93335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335,Postaxial polydactyly type B,21415,Morphological anomaly,36547,Disorder,1
6043,12269,93334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334,Postaxial polydactyly type A,21415,Morphological anomaly,36547,Disorder,1
6043,12268,93333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333,Pelviscapular dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,12272,93337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337,Polydactyly of an index finger,21415,Morphological anomaly,36547,Disorder,1
6043,27441,527276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,21394,Disease,36547,Disorder,2
6043,12280,93346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",21394,Disease,36547,Disorder,2
6043,12281,93347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347,Anauxetic dysplasia,21394,Disease,36547,Disorder,2
6043,12287,93356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356,"Spondyloepimetaphyseal dysplasia, Missouri type",21394,Disease,36547,Disorder,2
6043,12284,93351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351,"Spondyloepimetaphyseal dysplasia, Irapa type",21394,Disease,36547,Disorder,1
6043,12285,93352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352,"Spondyloepimetaphyseal dysplasia, Shohat type",21394,Disease,36547,Disorder,2
6043,12224,93284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284,Spondyloepiphyseal dysplasia tarda,21394,Disease,36547,Disorder,1
6043,12233,93296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296,Achondrogenesis type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12235,93298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298,Achondrogenesis type 1B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12234,93297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297,Hypochondrogenesis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12236,93299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299,Achondrogenesis type 1A,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12239,93302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302,"Brachyolmia, Maroteaux type",21401,Malformation syndrome,36547,Disorder,2
6043,12244,93307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307,Multiple epiphyseal dysplasia type 4,21394,Disease,36547,Disorder,1
6043,12245,93308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308,Multiple epiphyseal dysplasia type 1,21394,Disease,36547,Disorder,1
6043,12248,93311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311,Multiple epiphyseal dysplasia type 5,21394,Disease,36547,Disorder,2
6043,12251,93314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314,"Spondylometaphyseal dysplasia, Kozlowski type",21394,Disease,36547,Disorder,1
6043,12252,93315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",21394,Disease,36547,Disorder,2
6043,12253,93316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316,"Spondylometaphyseal dysplasia, Schmidt type",21394,Disease,36547,Disorder,2
6043,12254,93317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317,"Spondylometaphyseal dysplasia, Sedaghatian type",21401,Malformation syndrome,36547,Disorder,2
6043,27631,529962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962,17q24.2 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27630,529864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864,Secondary erythromelalgia,21394,Disease,36547,Disorder,2
6043,27629,529852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852,Combined hepatocellular carcinoma and cholangiocarcinoma,21394,Disease,36547,Disorder,1
6043,12074,90673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673,Hypothyroidism due to TSH receptor mutations,21394,Disease,36547,Disorder,1
6043,12075,90674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674,Isolated thyroid-stimulating hormone deficiency,21394,Disease,36547,Disorder,1
6043,27624,529831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831,Letrozole toxicity,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,27623,529828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529828,Enzalutamide toxicity,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,27620,529808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808,Chronic bilirubin encephalopathy,21422,Clinical syndrome,36547,Disorder,3
6043,12066,90658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658,Charcot-Marie-Tooth disease type 1E,21394,Disease,36547,Disorder,1
6043,27619,529799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799,Acute bilirubin encephalopathy,21422,Clinical syndrome,36547,Disorder,1
6043,12095,90791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,21394,Disease,36547,Disorder,2
6043,12094,90790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,21394,Disease,36547,Disorder,1
6043,27636,529980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980,Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,21394,Disease,36547,Disorder,2
6043,27635,529977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,21394,Disease,36547,Disorder,2
6043,27632,529965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,27633,529970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970,Male infertility due to acephalic spermatozoa,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12044,90400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400,Scleromyxedema without monoclonal gammopathy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12045,90625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625,X-linked non-syndromic sensorineural deafness type DFN,21443,Etiological subtype,36554,Subtype of disorder,1
6043,12046,90635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635,Autosomal dominant non-syndromic sensorineural deafness type DFNA,21443,Etiological subtype,36554,Subtype of disorder,1
6043,12047,90636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636,Autosomal recessive non-syndromic sensorineural deafness type DFNB,21443,Etiological subtype,36554,Subtype of disorder,1
6043,27593,529468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468,Monoclonal mast cell activation syndrome,21394,Disease,36547,Disorder,1
6043,27595,529574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574,Duane retraction syndrome with congenital deafness,21401,Malformation syndrome,36547,Disorder,2
6043,12042,90398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398,Localized lichen myxedematosus with mixed features of different subtypes,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12043,90399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12032,90368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368,Hypotrichosis simplex of the scalp,21394,Disease,36547,Disorder,1
6043,12034,90390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390,Anonychia-onychodystrophy syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12060,90652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652,Otopalatodigital syndrome type 2,21401,Malformation syndrome,36547,Disorder,2
6043,27609,529665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12056,90647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647,Jervell and Lange-Nielsen syndrome,21394,Disease,36547,Disorder,1
6043,12055,90646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646,Deafness-hypogonadism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12050,90641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641,Mitochondrial non-syndromic sensorineural deafness,21443,Etiological subtype,36554,Subtype of disorder,1
6043,12138,91387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387,Familial thoracic aortic aneurysm and aortic dissection,21394,Disease,36547,Disorder,2
6043,12139,91396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396,Isolated cryptophthalmia,21415,Morphological anomaly,36547,Disorder,2
6043,12136,91378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378,Hereditary angioedema,21436,Clinical group,36540,Group of disorders,4
6043,12137,91385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91385,Acquired angioedema,21436,Clinical group,36540,Group of disorders,3
6043,12142,91412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412,Marcus-Gunn syndrome,21394,Disease,36547,Disorder,1
6043,12140,91397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397,Isolated ankyloblepharon filiforme adnatum,21415,Morphological anomaly,36547,Disorder,1
6043,12141,91411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411,Congenital ptosis,21394,Disease,36547,Disorder,1
6043,12129,91355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355,Sheehan syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,12133,91359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359,Chronic pneumonitis of infancy,21394,Disease,36547,Disorder,1
6043,12155,91496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496,Snowflake vitreoretinal degeneration,21394,Disease,36547,Disorder,2
6043,12154,91495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495,Persistent hyperplastic primary vitreous,21394,Disease,36547,Disorder,1
6043,12153,91494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494,Macular coloboma-cleft palate-hallux valgus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12159,91546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546,Lyme disease,21394,Disease,36547,Disorder,7
6043,12158,91500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500,Tubulointerstitial nephritis and uveitis syndrome,21394,Disease,36547,Disorder,1
6043,12157,91498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498,Familial congenital palsy of trochlear nerve,21394,Disease,36547,Disorder,2
6043,12147,91481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481,Ring dermoid of cornea,21394,Disease,36547,Disorder,2
6043,12146,91416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416,Isolated congenital alacrima,21394,Disease,36547,Disorder,1
6043,12144,91414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414,Pilomatrixoma,21394,Disease,36547,Disorder,1
6043,12104,91127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91127,Adenovirus infection in immunocompromised patients,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,12107,91130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,21394,Disease,36547,Disorder,2
6043,12108,91131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131,DK1-CDG,21394,Disease,36547,Disorder,2
6043,12109,91132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132,Ichthyosis-hypotrichosis syndrome,21394,Disease,36547,Disorder,2
6043,12110,91133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91133,Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12096,90793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,21394,Disease,36547,Disorder,1
6043,12097,90794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,21394,Disease,36547,Disorder,11
6043,12098,90795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,21394,Disease,36547,Disorder,2
6043,12099,90796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",21394,Disease,36547,Disorder,2
6043,12100,90797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797,Partial androgen insensitivity syndrome,21394,Disease,36547,Disorder,1
6043,12101,90970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970,Primary lipodystrophy,36561,Category,36540,Group of disorders,1
6043,12121,91347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347,TSH-secreting pituitary adenoma,21394,Disease,36547,Disorder,1
6043,12123,91349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349,Non-functioning pituitary adenoma,21394,Disease,36547,Disorder,9
6043,12124,91350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350,Pituitary deficiency due to Rathke cleft cysts,21394,Disease,36547,Disorder,1
6043,12113,91136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,21394,Disease,36547,Disorder,2
6043,12112,91135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,21394,Disease,36547,Disorder,2
6043,12115,91138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138,Cryoglobulinemic vasculitis,21394,Disease,36547,Disorder,2
6043,12114,91137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137,Immunotactoid or fibrillary glomerulopathy,21436,Clinical group,36540,Group of disorders,1
6043,12116,91139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139,Simple cryoglobulinemia,21394,Disease,36547,Disorder,1
6043,11422,79396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396,"Epidermolysis bullosa simplex, generalized severe",21394,Disease,36547,Disorder,1
6043,11423,79397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397,Epidermolysis bullosa simplex with mottled pigmentation,21394,Disease,36547,Disorder,1
6043,11420,79394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394,Congenital non-bullous ichthyosiform erythroderma,21394,Disease,36547,Disorder,2
6043,11421,79395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395,Keratoderma hereditarium mutilans with ichthyosis,21394,Disease,36547,Disorder,2
6043,11399,79373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373,Ectodermal dysplasia syndrome,36561,Category,36540,Group of disorders,1
6043,11425,79399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399,"Epidermolysis bullosa simplex, generalized intermediate",21394,Disease,36547,Disorder,1
6043,11427,79401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401,"Epidermolysis bullosa simplex, Ogna type",21394,Disease,36547,Disorder,2
6043,11426,79400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400,Localized epidermolysis bullosa simplex,21394,Disease,36547,Disorder,1
6043,11429,79403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403,Junctional epidermolysis bullosa-pyloric atresia syndrome,21394,Disease,36547,Disorder,2
6043,11428,79402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402,"Junctional epidermolysis bullosa, generalized intermediate",21450,Clinical subtype,36554,Subtype of disorder,1
6043,11431,79405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405,Junctional epidermolysis bullosa inversa,21394,Disease,36547,Disorder,2
6043,11430,79404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404,"Junctional epidermolysis bullosa, generalized severe",21394,Disease,36547,Disorder,5
6043,11432,79406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406,Late-onset junctional epidermolysis bullosa,21394,Disease,36547,Disorder,2
6043,11435,79409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409,Recessive dystrophic epidermolysis bullosa inversa,21394,Disease,36547,Disorder,2
6043,11434,79408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408,Severe generalized recessive dystrophic epidermolysis bullosa,21394,Disease,36547,Disorder,3
6043,11437,79411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411,Transient bullous dermolysis of the newborn,21394,Disease,36547,Disorder,2
6043,11436,79410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410,Pretibial dystrophic epidermolysis bullosa,21394,Disease,36547,Disorder,2
6043,11478,79452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452,Milroy disease,21394,Disease,36547,Disorder,2
6043,11473,79447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447,X-linked lethal multiple pterygium syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11482,79456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456,Diffuse cutaneous mastocytosis,21394,Disease,36547,Disorder,2
6043,11483,79457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457,Maculopapular cutaneous mastocytosis,21394,Disease,36547,Disorder,1
6043,11481,79455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455,Cutaneous mastocytoma,21394,Disease,36547,Disorder,1
6043,11461,79435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435,Oculocutaneous albinism type 4,21394,Disease,36547,Disorder,1
6043,11460,79434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434,Oculocutaneous albinism type 1B,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11459,79433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433,Oculocutaneous albinism type 3,21394,Disease,36547,Disorder,3
6043,11458,79432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432,Oculocutaneous albinism type 2,21394,Disease,36547,Disorder,5
6043,11457,79431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431,Oculocutaneous albinism type 1A,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11456,79430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430,Hermansky-Pudlak syndrome,21394,Disease,36547,Disorder,2
6043,11471,79445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445,Pseudopseudohypoparathyroidism,21394,Disease,36547,Disorder,1
6043,11470,79444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444,Pseudohypoparathyroidism type 1C,21394,Disease,36547,Disorder,1
6043,11469,79443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443,Pseudohypoparathyroidism type 1A,21394,Disease,36547,Disorder,1
6043,11504,79478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478,Griscelli syndrome type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11505,79479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479,Pemphigus vegetans,21394,Disease,36547,Disorder,1
6043,11507,79481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481,Pemphigus foliaceus,21394,Disease,36547,Disorder,1
6043,11519,79493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493,Brooke-Spiegler syndrome,21394,Disease,36547,Disorder,2
6043,11503,79477,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477,Griscelli syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11502,79476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476,Griscelli syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11499,79473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473,Porphyria variegata,21394,Disease,36547,Disorder,22
6043,11290,79264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264,Juvenile neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,10
6043,11289,79263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263,Infantile neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,6
6043,11288,79262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262,Adult neuronal ceroid lipofuscinosis,21394,Disease,36547,Disorder,1
6043,11295,79269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269,Sanfilippo syndrome type A,21443,Etiological subtype,36554,Subtype of disorder,7
6043,11283,79257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257,GM1 gangliosidosis type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11282,79256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256,GM1 gangliosidosis type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11281,79255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255,GM1 gangliosidosis type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11285,79259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11284,79258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,21450,Clinical subtype,36554,Subtype of disorder,3
6043,11272,79246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246,Pyruvate dehydrogenase phosphatase deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11279,79253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253,Mild phenylketonuria,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11266,79240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,21394,Disease,36547,Disorder,1
6043,11267,79241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241,Biotinidase deficiency,21394,Disease,36547,Disorder,12
6043,11264,79238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238,Galactose epimerase deficiency,21394,Disease,36547,Disorder,1
6043,11265,79239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239,Classic galactosemia,21394,Disease,36547,Disorder,8
6043,11270,79244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244,Pyruvate dehydrogenase E2 deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11268,79242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242,Holocarboxylase synthetase deficiency,21394,Disease,36547,Disorder,2
6043,11269,79243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243,Pyruvate dehydrogenase E1-alpha deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11324,79298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298,Diazoxide-resistant focal hyperinsulinism,21436,Clinical group,36540,Group of disorders,1
6043,11327,79301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301,Congenital bile acid synthesis defect type 1,21394,Disease,36547,Disorder,1
6043,11319,79293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293,Familial LCAT deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11318,79292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292,Fish-eye disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11304,79278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278,Autosomal erythropoietic protoporphyria,21394,Disease,36547,Disorder,22
6043,11305,79279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279,Alpha-N-acetylgalactosaminidase deficiency type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11306,79280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280,Alpha-N-acetylgalactosaminidase deficiency type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11307,79281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281,Alpha-N-acetylgalactosaminidase deficiency type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11308,79282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282,"Methylmalonic acidemia with homocystinuria, type cblC",21450,Clinical subtype,36554,Subtype of disorder,2
6043,11309,79283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283,"Methylmalonic acidemia with homocystinuria, type cblD",21450,Clinical subtype,36554,Subtype of disorder,2
6043,11310,79284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284,Methylmalonic acidemia with homocystinuria type cblF,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11296,79270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270,Sanfilippo syndrome type B,21443,Etiological subtype,36554,Subtype of disorder,6
6043,11297,79271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271,Sanfilippo syndrome type C,21443,Etiological subtype,36554,Subtype of disorder,6
6043,11298,79272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272,Sanfilippo syndrome type D,21443,Etiological subtype,36554,Subtype of disorder,2
6043,11299,79273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273,Hereditary coproporphyria,21394,Disease,36547,Disorder,1
6043,11302,79276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276,Acute intermittent porphyria,21394,Disease,36547,Disorder,22
6043,11303,79277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277,Congenital erythropoietic porphyria,21394,Disease,36547,Disorder,3
6043,11359,79333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333,COG7-CDG,21394,Disease,36547,Disorder,2
6043,11358,79332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332,B4GALT1-CDG,21394,Disease,36547,Disorder,2
6043,11356,79330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330,MOGS-CDG,21394,Disease,36547,Disorder,2
6043,11355,79329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329,MGAT2-CDG,21394,Disease,36547,Disorder,2
6043,11354,79328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328,ALG9-CDG,21394,Disease,36547,Disorder,2
6043,11353,79327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327,ALG1-CDG,21394,Disease,36547,Disorder,2
6043,11352,79326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326,ALG2-CDG,21394,Disease,36547,Disorder,2
6043,11351,79325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325,ALG8-CDG,21394,Disease,36547,Disorder,2
6043,11350,79324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324,ALG12-CDG,21394,Disease,36547,Disorder,2
6043,11349,79323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323,MPDU1-CDG,21394,Disease,36547,Disorder,2
6043,11348,79322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322,DPM1-CDG,21394,Disease,36547,Disorder,2
6043,11347,79321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321,ALG3-CDG,21394,Disease,36547,Disorder,2
6043,11346,79320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320,ALG6-CDG,21394,Disease,36547,Disorder,2
6043,11345,79319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319,MPI-CDG,21394,Disease,36547,Disorder,2
6043,11344,79318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318,PMM2-CDG,21394,Disease,36547,Disorder,3
6043,11340,79314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314,L-2-hydroxyglutaric aciduria,21394,Disease,36547,Disorder,2
6043,11341,79315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315,D-2-hydroxyglutaric aciduria,21394,Disease,36547,Disorder,2
6043,11338,79312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11336,79310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310,Vitamin B12-responsive methylmalonic acidemia type cblA,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11332,79306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306,Progressive familial intrahepatic cholestasis type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11330,79304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304,Progressive familial intrahepatic cholestasis type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11331,79305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305,Progressive familial intrahepatic cholestasis type 3,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11328,79302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302,Congenital bile acid synthesis defect type 3,21394,Disease,36547,Disorder,2
6043,11329,79303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303,Congenital bile acid synthesis defect type 2,21394,Disease,36547,Disorder,1
6043,11387,79361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361,Inherited epidermolysis bullosa,36561,Category,36540,Group of disorders,5
6043,11377,79351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",21443,Etiological subtype,36554,Subtype of disorder,2
6043,11376,79350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",21443,Etiological subtype,36554,Subtype of disorder,2
6043,11373,79347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347,"Chondrodysplasia punctata, Toriello type",21401,Malformation syndrome,36547,Disorder,2
6043,11371,79345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345,Brachytelephalangic chondrodysplasia punctata,21401,Malformation syndrome,36547,Disorder,1
6043,11649,85191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191,Singleton-Merten dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,11648,85188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188,"Metaphyseal dysplasia, Braun-Tinschert type",21401,Malformation syndrome,36547,Disorder,1
6043,11651,85193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193,Idiopathic juvenile osteoporosis,21401,Malformation syndrome,36547,Disorder,1
6043,11650,85192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192,Calvarial doughnut lesions-bone fragility syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11652,85194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194,Spondylo-ocular syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11655,85197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197,Genochondromatosis type 1,21394,Disease,36547,Disorder,1
6043,11657,85199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11656,85198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198,Dysspondyloenchondromatosis,21401,Malformation syndrome,36547,Disorder,3
6043,11659,85201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201,Genitopatellar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11661,85203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203,Acropectoral syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11660,85202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202,Keutel syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11663,85273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273,"X-linked intellectual disability, Abidi type",21401,Malformation syndrome,36547,Disorder,2
6043,11662,85212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212,Fetal Gaucher disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11664,85274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274,Syndromic X-linked intellectual disability 7,21401,Malformation syndrome,36547,Disorder,2
6043,11665,85275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275,Microphthalmia-ankyloblepharon-intellectual disability syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,11666,85276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276,"X-linked intellectual disability, Armfield type",21401,Malformation syndrome,36547,Disorder,2
6043,11667,85277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277,"X-linked intellectual disability, Cantagrel type",21401,Malformation syndrome,36547,Disorder,2
6043,11668,85278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278,Christianson syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11669,85279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279,Syndromic X-linked intellectual disability due to JARID1C mutation,21401,Malformation syndrome,36547,Disorder,2
6043,11670,85280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11672,85282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282,MEHMO syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11673,85283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283,"X-linked intellectual disability, Miles-Carpenter type",21401,Malformation syndrome,36547,Disorder,2
6043,11674,85284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284,BRESEK syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11675,85285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285,"X-linked intellectual disability, Schimke type",21401,Malformation syndrome,36547,Disorder,2
6043,11676,85286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286,"X-linked intellectual disability, Shashi type",21401,Malformation syndrome,36547,Disorder,2
6043,11677,85287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287,"X-linked intellectual disability, Siderius type",21401,Malformation syndrome,36547,Disorder,2
6043,11678,85288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288,"X-linked intellectual disability, Stocco Dos Santos type",21401,Malformation syndrome,36547,Disorder,2
6043,11683,85293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293,"X-linked intellectual disability, Cabezas type",21401,Malformation syndrome,36547,Disorder,2
6043,11682,85292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292,X-linked spinocerebellar ataxia type 4,21394,Disease,36547,Disorder,2
6043,11680,85290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290,"X-linked intellectual disability, Wilson type",21401,Malformation syndrome,36547,Disorder,2
6043,11687,85317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11686,85297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297,X-linked spinocerebellar ataxia type 3,21401,Malformation syndrome,36547,Disorder,2
6043,11685,85295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295,"HSD10 disease, atypical type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,11684,85294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,21394,Disease,36547,Disorder,1
6043,11691,85321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321,"Deafness-intellectual disability syndrome, Martin-Probst type",21401,Malformation syndrome,36547,Disorder,2
6043,11690,85320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11689,85319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11695,85325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325,"X-linked intellectual disability, Stevenson type",21401,Malformation syndrome,36547,Disorder,2
6043,11694,85324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324,"X-linked intellectual disability, Shrimpton type",21401,Malformation syndrome,36547,Disorder,2
6043,11693,85323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323,"X-linked intellectual disability, Seemanova type",21394,Disease,36547,Disorder,2
6043,11692,85322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322,"X-linked intellectual disability, Pai type",21401,Malformation syndrome,36547,Disorder,2
6043,11698,85328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85328,"X-linked intellectual disability, Turner type",21401,Malformation syndrome,36547,Disorder,1
6043,11699,85329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11696,85326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326,"X-linked intellectual disability, Stoll type",21401,Malformation syndrome,36547,Disorder,2
6043,11697,85327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,21394,Disease,36547,Disorder,2
6043,11702,85332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332,X-linked intellectual disability-retinitis pigmentosa syndrome,21394,Disease,36547,Disorder,1
6043,11706,85336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336,"X-linked neurodegenerative syndrome, Hamel type",21394,Disease,36547,Disorder,2
6043,11704,85334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334,"X-linked neurodegenerative syndrome, Bertini type",21394,Disease,36547,Disorder,2
6043,11705,85335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335,Fried syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11710,85410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410,Oligoarticular juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11711,85414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414,Systemic-onset juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11708,85338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338,X-linked intellectual disability-ataxia-apraxia syndrome,21394,Disease,36547,Disorder,2
6043,11709,85408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11717,85443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443,AL amyloidosis,21394,Disease,36547,Disorder,2
6043,11716,85442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,21394,Disease,36547,Disorder,2
6043,11719,85446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446,Wild type ABeta2M amyloidosis,21394,Disease,36547,Disorder,1
6043,11718,85445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445,AA amyloidosis,21394,Disease,36547,Disorder,2
6043,11713,85436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436,Psoriasis-related juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11712,85435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11715,85438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438,Enthesitis-related juvenile idiopathic arthritis,21394,Disease,36547,Disorder,1
6043,11725,85458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458,Hereditary cerebral hemorrhage with amyloidosis,21394,Disease,36547,Disorder,2
6043,11724,85453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453,X-linked reticulate pigmentary disorder,21394,Disease,36547,Disorder,2
6043,11727,86788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788,X-linked severe congenital neutropenia,21394,Disease,36547,Disorder,2
6043,11726,86309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309,DPAGT1-CDG,21394,Disease,36547,Disorder,2
6043,11721,85448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448,AGel amyloidosis,21394,Disease,36547,Disorder,2
6043,11720,85447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447,ATTRV30M amyloidosis,21394,Disease,36547,Disorder,8
6043,11723,85451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451,ATTRV122I amyloidosis,21394,Disease,36547,Disorder,1
6043,11722,85450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450,Hereditary amyloidosis with primary renal involvement,21394,Disease,36547,Disorder,1
6043,11732,86812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812,POMT1-related  limb-girdle muscular dystrophy R11,21394,Disease,36547,Disorder,1
6043,11733,86813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813,Helicoid peripapillary chorioretinal degeneration,21394,Disease,36547,Disorder,2
6043,11734,86814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814,Benign adult familial myoclonic epilepsy,21394,Disease,36547,Disorder,2
6043,11728,86789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789,Patella aplasia/hypoplasia,21415,Morphological anomaly,36547,Disorder,2
6043,11731,86797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797,Atypical lichen myxedematosus,21394,Disease,36547,Disorder,2
6043,11740,86820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820,Familial avascular necrosis of femoral head,21394,Disease,36547,Disorder,2
6043,11741,86821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11742,86822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11743,86823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823,Lissencephaly with cerebellar hypoplasia,21436,Clinical group,36540,Group of disorders,1
6043,11736,86816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816,Congenital analbuminemia,21394,Disease,36547,Disorder,2
6043,11737,86817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817,Hemolytic anemia due to adenylate kinase deficiency,21394,Disease,36547,Disorder,2
6043,11738,86818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,21394,Disease,36547,Disorder,2
6043,26906,512034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034,Large granular lymphocyte leukemia,21436,Clinical group,36540,Group of disorders,1
6043,11751,86843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843,Acute panmyelosis with myelofibrosis,21394,Disease,36547,Disorder,1
6043,11750,86841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,21394,Disease,36547,Disorder,1
6043,11749,86839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839,Refractory anemia with excess blasts,21394,Disease,36547,Disorder,2
6043,11748,86836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836,Refractory cytopenia with multilineage dysplasia,21436,Clinical group,36540,Group of disorders,1
6043,11747,86834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834,Juvenile myelomonocytic leukemia,21394,Disease,36547,Disorder,1
6043,11745,86830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830,"Chronic myeloproliferative disease, unclassifiable",21394,Disease,36547,Disorder,1
6043,11744,86829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829,Chronic neutrophilic leukemia,21394,Disease,36547,Disorder,1
6043,11759,86855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855,Plasmacytoma,21394,Disease,36547,Disorder,2
6043,26926,512260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260,Congenital cerebellar ataxia due to RNU12 mutation,21394,Disease,36547,Disorder,2
6043,11758,86854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854,Splenic marginal zone lymphoma,21394,Disease,36547,Disorder,1
6043,11757,86852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852,B-cell prolymphocytic leukemia,21394,Disease,36547,Disorder,1
6043,11755,86850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850,Myeloid sarcoma,21394,Disease,36547,Disorder,2
6043,11754,86849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849,Acute basophilic leukemia,21394,Disease,36547,Disorder,1
6043,11753,86846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,36561,Category,36540,Group of disorders,1
6043,11752,86845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845,Acute myeloid leukaemia with myelodysplasia-related features,21394,Disease,36547,Disorder,1
6043,11766,86872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872,T-cell large granular lymphocyte leukemia,21394,Disease,36547,Disorder,2
6043,11767,86873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873,Aggressive NK-cell leukemia,21394,Disease,36547,Disorder,1
6043,11764,86870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870,CD4+/CD56+ hematodermic neoplasm,21394,Disease,36547,Disorder,1
6043,11762,86867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867,Nodal marginal zone B-cell lymphoma,21394,Disease,36547,Disorder,1
6043,11761,86864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864,Heavy chain disease,21394,Disease,36547,Disorder,2
6043,11774,86886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886,Angioimmunoblastic T-cell lymphoma,21394,Disease,36547,Disorder,1
6043,11775,86893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893,Nodular lymphocyte predominant Hodgkin lymphoma,21394,Disease,36547,Disorder,23
6043,11772,86884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884,Subcutaneous panniculitis-like T-cell lymphoma,21394,Disease,36547,Disorder,1
6043,11770,86880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880,Enteropathy-associated T-cell lymphoma,21394,Disease,36547,Disorder,2
6043,11771,86882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882,Hepatosplenic T-cell lymphoma,21394,Disease,36547,Disorder,2
6043,11768,86875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875,Adult T-cell leukemia/lymphoma,21394,Disease,36547,Disorder,1
6043,11769,86879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879,Extranodal nasal NK/T cell lymphoma,21394,Disease,36547,Disorder,1
6043,11528,79502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502,Punctate palmoplantar keratoderma type 2,21394,Disease,36547,Disorder,2
6043,11529,79503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503,Ichthyosis hystrix of Curth-Macklin,21394,Disease,36547,Disorder,2
6043,11533,79507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507,Hypotonia-failure to thrive-microcephaly syndrome,21394,Disease,36547,Disorder,2
6043,11525,79499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499,Autosomal dominant deafness-onychodystrophy syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11526,79500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500,DOORS syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11527,79501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501,Punctate palmoplantar keratoderma type 1,21394,Disease,36547,Disorder,4
6043,11544,79665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665,Gardner syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11543,79651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651,Mild hyperphenylalaninemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,11542,79644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,21394,Disease,36547,Disorder,1
6043,11562,83317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83317,Scrub typhus,21394,Disease,36547,Disorder,3
6043,11563,83330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330,Proximal spinal muscular atrophy type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11560,83315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83315,Murine typhus,21394,Disease,36547,Disorder,1
6043,11561,83316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83316,Pseudotyphus of California,21394,Disease,36547,Disorder,1
6043,11566,83419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419,Proximal spinal muscular atrophy type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11567,83420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420,Proximal spinal muscular atrophy type 4,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11565,83418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418,Proximal spinal muscular atrophy type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,11558,83313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83313,Boutonneuse fever,21394,Disease,36547,Disorder,3
6043,11559,83314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83314,Epidemic typhus,21394,Disease,36547,Disorder,1
6043,11556,83311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83311,Rocky Mountain spotted fever,21394,Disease,36547,Disorder,2
6043,11557,83312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83312,Rickettsialpox,21394,Disease,36547,Disorder,2
6043,11579,83469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469,Desmoplastic small round cell tumor,21394,Disease,36547,Disorder,3
6043,11578,83468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468,Solitary bone cyst,21394,Disease,36547,Disorder,1
6043,11577,83467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467,Morvan syndrome,21394,Disease,36547,Disorder,2
6043,11576,83465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465,Narcolepsy type 2,21394,Disease,36547,Disorder,2
6043,11583,83476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476,West-Nile encephalitis,21394,Disease,36547,Disorder,9
6043,11582,83473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11581,83472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472,CAMOS syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11580,83471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471,Thymic aplasia,21394,Disease,36547,Disorder,1
6043,11571,83452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452,Complex regional pain syndrome,21394,Disease,36547,Disorder,2
6043,11570,83451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451,Florid cemento-osseous dysplasia,21394,Disease,36547,Disorder,1
6043,11569,83450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450,Regional odontodysplasia,21394,Disease,36547,Disorder,2
6043,11575,83463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463,Microtia,21415,Morphological anomaly,36547,Disorder,17
6043,11574,83461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461,Congenital primary aphakia,21401,Malformation syndrome,36547,Disorder,1
6043,11573,83454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454,Glomuvenous malformation,21401,Malformation syndrome,36547,Disorder,1
6043,11572,83453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453,Vulvovaginal gingival syndrome,21394,Disease,36547,Disorder,2
6043,27125,514352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11597,83619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11598,83620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620,Enteric anendocrinosis,21394,Disease,36547,Disorder,2
6043,11599,83628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628,LUMBAR syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11592,83601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,21394,Disease,36547,Disorder,1
6043,11594,83616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616,Rubella panencephalitis,21394,Disease,36547,Disorder,2
6043,11595,83617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11588,83594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594,Eastern equine encephalitis,21394,Disease,36547,Disorder,2
6043,11589,83595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595,Colorado tick fever,21394,Disease,36547,Disorder,1
6043,11590,83597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597,Acute disseminated encephalomyelitis,21394,Disease,36547,Disorder,2
6043,11591,83600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600,Encephalitis lethargica,21394,Disease,36547,Disorder,1
6043,11584,83482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482,Mycoplasma encephalitis,21394,Disease,36547,Disorder,1
6043,11585,83483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483,La Crosse encephalitis,21394,Disease,36547,Disorder,2
6043,11586,83484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484,St. Louis encephalitis,21394,Disease,36547,Disorder,2
6043,11587,83593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593,Western equine encephalitis,21394,Disease,36547,Disorder,2
6043,11613,84085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085,Hinman syndrome,21394,Disease,36547,Disorder,1
6043,11612,84081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081,Senior-Boichis syndrome,21394,Disease,36547,Disorder,1
6043,11615,84090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090,Fibronectin glomerulopathy,21394,Disease,36547,Disorder,2
6043,11605,84064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064,Syndromic diarrhea,21394,Disease,36547,Disorder,3
6043,27024,513436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436,Autosomal recessive spastic paraplegia type 78,21394,Disease,36547,Disorder,2
6043,11601,83639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,21394,Disease,36547,Disorder,2
6043,11600,83629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,21394,Disease,36547,Disorder,2
6043,27025,513456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,21394,Disease,36547,Disorder,2
6043,11602,83642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642,Microcytic anemia with liver iron overload,21394,Disease,36547,Disorder,2
6043,11630,85163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163,Hypomyelination-congenital cataract syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11631,85164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,21394,Disease,36547,Disorder,2
6043,11628,85146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",21394,Disease,36547,Disorder,2
6043,11629,85162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162,Facial onset sensory and motor neuronopathy,21394,Disease,36547,Disorder,2
6043,11626,85138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138,Addison disease,21394,Disease,36547,Disorder,4
6043,11624,85128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128,Bothnia retinal dystrophy,21394,Disease,36547,Disorder,1
6043,11625,85136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136,Cystic leukoencephalopathy without megalencephaly,21394,Disease,36547,Disorder,2
6043,11622,85110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110,Familial encephalopathy with neuroserpin inclusion bodies,21394,Disease,36547,Disorder,2
6043,11623,85112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,21394,Disease,36547,Disorder,2
6043,11618,84132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132,Desmin-related myopathy with Mallory body-like inclusions,21394,Disease,36547,Disorder,2
6043,11619,84142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142,Isaac syndrome,21394,Disease,36547,Disorder,2
6043,11616,84093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093,Hereditary thermosensitive neuropathy,21394,Disease,36547,Disorder,2
6043,11647,85186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11646,85184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184,"Craniometadiaphyseal dysplasia, wormian bone type",21401,Malformation syndrome,36547,Disorder,2
6043,11644,85179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179,Infantile osteopetrosis with neuroaxonal dysplasia,21401,Malformation syndrome,36547,Disorder,1
6043,11642,85175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175,Astley-Kendall dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,11641,85174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174,Pseudodiastrophic dysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,11640,85173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173,IMAGe syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,11639,85172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",21394,Disease,36547,Disorder,2
6043,11637,85170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170,"Mesomelic dysplasia, Savarirayan type",21401,Malformation syndrome,36547,Disorder,1
6043,11636,85169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169,Familial digital arthropathy-brachydactyly,21401,Malformation syndrome,36547,Disorder,1
6043,11635,85168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168,Craniofacial conodysplasia,21401,Malformation syndrome,36547,Disorder,2
6043,11634,85167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,21394,Disease,36547,Disorder,2
6043,11633,85166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166,"Platyspondylic dysplasia, Torrance type",21401,Malformation syndrome,36547,Disorder,1
6043,11632,85165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,21394,Disease,36547,Disorder,2
6043,13103,98085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085,"46,XY disorder of sex development",36561,Category,36540,Group of disorders,2
6043,13266,98249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249,Ehlers-Danlos syndrome,21436,Clinical group,36540,Group of disorders,2
6043,13304,98287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287,Histiocytic and dendritic cell tumor,36561,Category,36540,Group of disorders,1
6043,13310,98293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293,Hodgkin lymphoma,21436,Clinical group,36540,Group of disorders,5
6043,13309,98292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292,Mastocytosis,36561,Category,36540,Group of disorders,3
6043,13291,98274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274,Myeloproliferative neoplasm,21436,Clinical group,36540,Group of disorders,1
6043,13294,98277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277,Acute myeloid leukemia with recurrent genetic anomaly,36561,Category,36540,Group of disorders,1
6043,13292,98275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275,Myelodysplastic/myeloproliferative disease,21436,Clinical group,36540,Group of disorders,1
6043,12867,97245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245,Congenital myopathy,36561,Category,36540,Group of disorders,1
6043,12865,97242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242,Congenital muscular dystrophy,36561,Category,36540,Group of disorders,2
6043,12871,97261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261,GRFoma,21394,Disease,36547,Disorder,1
6043,12870,97253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253,Neuroendocrine tumor of pancreas,36561,Category,36540,Group of disorders,7
6043,12868,97249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249,Pontocerebellar hypoplasia type 3,21401,Malformation syndrome,36547,Disorder,2
6043,12875,97279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279,Insulinoma,21394,Disease,36547,Disorder,4
6043,12874,97278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278,PPoma,21394,Disease,36547,Disorder,1
6043,12879,97285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285,Thyroid lymphoma,21394,Disease,36547,Disorder,1
6043,12878,97283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283,Somatostatinoma,21394,Disease,36547,Disorder,2
6043,12877,97282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282,VIPoma,21394,Disease,36547,Disorder,2
6043,12876,97280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280,Glucagonoma,21394,Disease,36547,Disorder,2
6043,12883,97290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290,Familial papillary thyroid carcinoma with renal papillary neoplasia,21394,Disease,36547,Disorder,1
6043,12880,97286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286,Carney-Stratakis syndrome,21394,Disease,36547,Disorder,2
6043,12885,97292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292,Cardiogenic shock,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,12891,97335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335,Osgood-Schlatter disease,21394,Disease,36547,Disorder,1
6043,12888,97297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297,Bohring-Opitz syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12889,97330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330,Thoracic outlet syndrome,21394,Disease,36547,Disorder,1
6043,12895,97339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339,Dural sinus malformation,21415,Morphological anomaly,36547,Disorder,1
6043,12892,97336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336,Panner disease,21394,Disease,36547,Disorder,1
6043,12893,97337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337,Sinding-Larsen-Johansson disease,21394,Disease,36547,Disorder,1
6043,12897,97341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341,Persistent placoid maculopathy,21394,Disease,36547,Disorder,2
6043,12896,97340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340,Hunter-McAlpine craniosynostosis,21401,Malformation syndrome,36547,Disorder,2
6043,12911,97360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360,Robinow syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12910,97355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355,Caribbean parkinsonism,21394,Disease,36547,Disorder,1
6043,12912,97361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361,"Renal hypoplasia, unilateral",21450,Clinical subtype,36554,Subtype of disorder,1
6043,12913,97362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362,"Renal hypoplasia, bilateral",21450,Clinical subtype,36554,Subtype of disorder,1
6043,12914,97363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363,Unilateral multicystic dysplastic kidney,21450,Clinical subtype,36554,Subtype of disorder,9
6043,12915,97364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364,Bilateral multicystic dysplastic kidney,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12922,97548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548,Right sided atrial isomerism,21401,Malformation syndrome,36547,Disorder,1
6043,12805,96181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181,Maternal uniparental disomy of chromosome 6,21401,Malformation syndrome,36547,Disorder,2
6043,12802,96178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178,Ring chromosome 16 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12801,96177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177,Ring chromosome 15 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12800,96176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176,Ring chromosome 13 syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,12812,96188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188,Maternal uniparental disomy of chromosome 22,21401,Malformation syndrome,36547,Disorder,2
6043,12811,96187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187,Maternal uniparental disomy of chromosome 21,21401,Malformation syndrome,36547,Disorder,2
6043,12810,96186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186,Maternal uniparental disomy of chromosome 20,21401,Malformation syndrome,36547,Disorder,2
6043,12808,96184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,21443,Etiological subtype,36554,Subtype of disorder,2
6043,12816,96192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192,Paternal uniparental disomy of chromosome 7,21401,Malformation syndrome,36547,Disorder,2
6043,12827,96253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253,Cushing disease,21394,Disease,36547,Disorder,2
6043,12833,96264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264,"49,XXXXY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,12832,96263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263,"48,XXXY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,12843,96334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,21443,Etiological subtype,36554,Subtype of disorder,2
6043,12855,97214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214,Eisenmenger syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12860,97234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,21394,Disease,36547,Disorder,2
6043,12862,97239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239,Reducing body myopathy,21394,Disease,36547,Disorder,2
6043,12863,97240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240,Zebra body myopathy,21394,Disease,36547,Disorder,2
6043,12856,97229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229,Riboflavin transporter deficiency,21401,Malformation syndrome,36547,Disorder,2
6043,12857,97230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230,Solar urticaria,21394,Disease,36547,Disorder,2
6043,12859,97232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232,Fingerprint body myopathy,21394,Disease,36547,Disorder,2
6043,12942,97678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678,Maternal uniparental disomy of chromosome 13,21401,Malformation syndrome,36547,Disorder,2
6043,12935,97593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593,Pseudohypoparathyroidism,36561,Category,36540,Group of disorders,3
6043,12930,97564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564,Pauci-immune glomerulonephritis without ANCA,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12929,97563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563,Pauci-immune glomerulonephritis with ANCA,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12945,97685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685,17q11 microdeletion syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12662,95707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707,Idiopathic isolated micropenis,21415,Morphological anomaly,36547,Disorder,1
6043,12663,95708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708,Rare precocious puberty,36561,Category,36540,Group of disorders,1
6043,12661,95706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706,Posterior hypospadias,21415,Morphological anomaly,36547,Disorder,2
6043,12657,95702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702,Cytomegalic congenital adrenal hypoplasia,21394,Disease,36547,Disorder,1
6043,12670,95715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,21394,Disease,36547,Disorder,1
6043,12671,95716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716,Familial thyroid dyshormonogenesis,21394,Disease,36547,Disorder,3
6043,12668,95713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713,Athyreosis,21415,Morphological anomaly,36547,Disorder,1
6043,12669,95714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714,Primary congenital hypothyroidism without thyroid developmental anomaly,36561,Category,36540,Group of disorders,1
6043,12666,95711,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711,Congenital hypothyroidism due to developmental anomaly,36561,Category,36540,Group of disorders,1
6043,12667,95712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712,Thyroid ectopia,21415,Morphological anomaly,36547,Disorder,1
6043,12640,95613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613,Pituitary apoplexy,21394,Disease,36547,Disorder,1
6043,12655,95700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,21394,Disease,36547,Disorder,2
6043,12654,95699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,21394,Disease,36547,Disorder,2
6043,12650,95626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626,Acquired central diabetes insipidus,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12630,95506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506,Primary hypophysitis,21436,Clinical group,36540,Group of disorders,1
6043,12620,95496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496,Pituitary stalk interruption syndrome,21415,Morphological anomaly,36547,Disorder,1
6043,12618,95494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494,"Combined pituitary hormone deficiencies, genetic forms",21394,Disease,36547,Disorder,1
6043,12592,95433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,21394,Disease,36547,Disorder,2
6043,12593,95434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434,Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome,21394,Disease,36547,Disorder,2
6043,12597,95455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,21394,Disease,36547,Disorder,5
6043,12578,95157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157,Acute hepatic porphyria,21436,Clinical group,36540,Group of disorders,1
6043,12581,95161,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161,Chronic hepatic porphyria,21436,Clinical group,36540,Group of disorders,1
6043,12580,95159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159,Hepatoerythropoietic porphyria,21394,Disease,36547,Disorder,2
6043,12587,95428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428,COG8-CDG,21394,Disease,36547,Disorder,2
6043,12584,95409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409,Acute adrenal insufficiency,21422,Clinical syndrome,36547,Disorder,1
6043,12591,95432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432,Primary progressive aphasia,21436,Clinical group,36540,Group of disorders,1
6043,12589,95430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430,Congenital tracheomalacia,21415,Morphological anomaly,36547,Disorder,1
6043,12588,95429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429,Angioma serpiginosum,21394,Disease,36547,Disorder,1
6043,12560,94091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94091,Mills syndrome,21394,Disease,36547,Disorder,1
6043,12561,94093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94093,Neuroleptic malignant syndrome,21394,Disease,36547,Disorder,1
6043,12562,94095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94095,Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12563,94122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122,"Cerebellar ataxia, Cayman type",21394,Disease,36547,Disorder,1
6043,12564,94124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124,Spinocerebellar ataxia with axonal neuropathy type 1,21394,Disease,36547,Disorder,2
6043,12566,94145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145,Autosomal dominant cerebellar ataxia type I,21436,Clinical group,36540,Group of disorders,1
6043,12567,94147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147,Spinocerebellar ataxia type 7,21394,Disease,36547,Disorder,1
6043,12568,94148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148,Autosomal dominant cerebellar ataxia type III,21436,Clinical group,36540,Group of disorders,1
6043,12545,94064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064,Deafness-infertility syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12544,94063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063,12q14 microdeletion syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12547,94066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,21401,Malformation syndrome,36547,Disorder,2
6043,12546,94065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065,15q24 microdeletion syndrome,21443,Etiological subtype,36554,Subtype of disorder,2
6043,12548,94068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068,Spondyloepiphyseal dysplasia congenita,21394,Disease,36547,Disorder,2
6043,12553,94083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083,Partington syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12555,94086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086,Blue diaper syndrome,21394,Disease,36547,Disorder,1
6043,12557,94088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088,Hereditary renal hypouricemia,21401,Malformation syndrome,36547,Disorder,1
6043,12556,94087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087,Cytophagic histiocytic panniculitis,21394,Disease,36547,Disorder,2
6043,12559,94090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090,Pseudohypoparathyroidism type 2,21394,Disease,36547,Disorder,1
6043,12558,94089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089,Pseudohypoparathyroidism type 1B,21394,Disease,36547,Disorder,1
6043,12799,96175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175,Ring chromosome 11 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12797,96173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173,Ring chromosome 9 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12796,96172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172,Ring chromosome 3 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12795,96171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171,Ring chromosome 2 syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12794,96170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170,Emanuel syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12793,96169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169,Koolen-De Vries syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,12791,96167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167,Recombinant 8 syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,12772,96148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148,Distal monosomy 10q,21401,Malformation syndrome,36547,Disorder,2
6043,12771,96147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147,Kleefstra syndrome due to 9q34 microdeletion,21443,Etiological subtype,36554,Subtype of disorder,2
6043,12749,96125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125,Distal monosomy 6p,21401,Malformation syndrome,36547,Disorder,2
6043,12745,96121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121,7q11.23 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12726,96102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102,Distal trisomy 10q,21401,Malformation syndrome,36547,Disorder,2
6043,12719,96095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095,3q26 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12716,96092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092,8p inverted duplication/deletion syndrome,21401,Malformation syndrome,36547,Disorder,3
6043,12702,96078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078,16p13.3 microduplication syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12685,96061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061,Mosaic trisomy 8,21401,Malformation syndrome,36547,Disorder,2
6043,12672,95717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717,Idiopathic congenital hypothyroidism,21394,Disease,36547,Disorder,1
6043,12674,95719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719,Thyroid hemiagenesis,21415,Morphological anomaly,36547,Disorder,1
6043,12675,95720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720,Thyroid hypoplasia,21415,Morphological anomaly,36547,Disorder,1
6043,12679,96055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055,Tetrasomy 21,21401,Malformation syndrome,36547,Disorder,2
6043,12397,93555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555,Mixed cryoglobulinemia type III,21443,Etiological subtype,36554,Subtype of disorder,1
6043,12396,93554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554,Mixed cryoglobulinemia type II,21443,Etiological subtype,36554,Subtype of disorder,1
6043,12403,93561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561,ALys amyloidosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12413,93571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571,Dense deposit disease,21457,Histopathological subtype,36554,Subtype of disorder,1
6043,12382,93474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474,Scheie syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12383,93476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476,Hurler-Scheie syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12381,93473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473,Hurler syndrome,21450,Clinical subtype,36554,Subtype of disorder,9
6043,12320,93398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398,Genochondromatosis type 2,21394,Disease,36547,Disorder,2
6043,12325,93403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403,Syndactyly type 2,21415,Morphological anomaly,36547,Disorder,1
6043,12324,93402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402,Syndactyly type 1,21415,Morphological anomaly,36547,Disorder,2
6043,12327,93405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405,Syndactyly type 4,21415,Morphological anomaly,36547,Disorder,2
6043,12326,93404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404,Syndactyly type 3,21415,Morphological anomaly,36547,Disorder,1
6043,12328,93406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406,Syndactyly type 5,21415,Morphological anomaly,36547,Disorder,2
6043,12331,93409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409,"Brachydactyly-syndactyly, Zhao type",21401,Malformation syndrome,36547,Disorder,2
6043,12334,93420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420,FGFR3-related chondrodysplasia,36561,Category,36540,Group of disorders,1
6043,12291,93360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360,Spondyloepimetaphyseal dysplasia with multiple dislocations,21394,Disease,36547,Disorder,1
6043,12290,93359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93359,Spondyloepimetaphyseal dysplasia with joint laxity,21394,Disease,36547,Disorder,1
6043,12289,93358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,21394,Disease,36547,Disorder,2
6043,12288,93357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357,SPONASTRIME dysplasia,21394,Disease,36547,Disorder,2
6043,12300,93372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372,Familial hypocalciuric hypercalcemia type 1,21443,Etiological subtype,36554,Subtype of disorder,2
6043,12306,93382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382,Brachydactyly type A6,21401,Malformation syndrome,36547,Disorder,2
6043,12307,93383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383,Brachydactyly type B,21401,Malformation syndrome,36547,Disorder,2
6043,12310,93387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387,Brachydactyly type E,21401,Malformation syndrome,36547,Disorder,1
6043,12311,93388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388,Brachydactyly type A1,21401,Malformation syndrome,36547,Disorder,1
6043,12308,93384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384,Brachydactyly type C,21401,Malformation syndrome,36547,Disorder,1
6043,12318,93396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396,Brachydactyly type A2,21401,Malformation syndrome,36547,Disorder,2
6043,12319,93397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397,Brachydactyly type A7,21401,Malformation syndrome,36547,Disorder,2
6043,12316,93394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394,Brachydactyly type A4,21401,Malformation syndrome,36547,Disorder,1
6043,12540,94059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059,Uremic pruritus,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,12539,94058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058,Neovascular glaucoma,21429,Particular clinical situation in a disease or syndrome,36547,Disorder,1
6043,12538,94056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056,Humero-ulnar synostosis,21415,Morphological anomaly,36547,Disorder,2
6043,12533,93975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93975,Renier-Gabreels-Jasper syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12532,93974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93974,Smith-Fineman-Myers syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12534,93976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976,Anotia,21415,Morphological anomaly,36547,Disorder,15
6043,12529,93971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93971,Chudley-Lowry-Hoar syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12528,93970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93970,Holmes-Gang syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12531,93973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93973,Carpenter-Waziri syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12530,93972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93972,Juberg-Marsidi syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,12490,93930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930,Bladder exstrophy,21450,Clinical subtype,36554,Subtype of disorder,5
6043,12488,93928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928,Isolated epispadias,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12489,93929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929,Cloacal exstrophy,21450,Clinical subtype,36554,Subtype of disorder,5
6043,12486,93926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926,Midline interhemispheric variant of holoprosencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12484,93924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924,Lobar holoprosencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12485,93925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925,Alobar holoprosencephaly,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12482,93921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921,Schwannomatosis,21394,Disease,36547,Disorder,2
6043,12511,93953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953,Familial thyroglossal duct cyst,21415,Morphological anomaly,36547,Disorder,2
6043,12510,93952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952,"X-linked intellectual disability, Hedera type",21394,Disease,36547,Disorder,2
6043,12507,93947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947,"X-linked intellectual disability, Golabi-Ito-Hall type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,12506,93946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946,Hamel cerebro-palato-cardiac syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12501,93941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941,Laryngotracheoesophageal cleft type 4,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12500,93940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940,Laryngotracheoesophageal cleft type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12499,93939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939,Laryngotracheoesophageal cleft type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12498,93938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938,Laryngotracheoesophageal cleft type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12449,93616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616,Hemoglobin H disease,21450,Clinical subtype,36554,Subtype of disorder,3
6043,12453,93622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622,Dent disease type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12454,93623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623,Dent disease type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12464,93672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672,Juvenile dermatomyositis,21394,Disease,36547,Disorder,2
6043,12466,93685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685,Unicentric Castleman disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12469,93890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890,Rare developmental defect during embryogenesis,36561,Category,36540,Group of disorders,2
6043,12426,93591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591,Infantile nephronophthisis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12431,93598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598,Primary hyperoxaluria type 1,21450,Clinical subtype,36554,Subtype of disorder,6
6043,12422,93583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583,Congenital thrombotic thrombocytopenic purpura,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12423,93585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585,Immune-mediated thrombotic thrombocytopenic purpura,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12443,93610,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610,Distal renal tubular acidosis with anemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12441,93608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608,Autosomal dominant distal renal tubular acidosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12440,93607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607,Autosomal recessive proximal renal tubular acidosis,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12433,93600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600,Primary hyperoxaluria type 3,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12432,93599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599,Primary hyperoxaluria type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,12439,93606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606,Nephrogenic syndrome of inappropriate antidiuresis,21394,Disease,36547,Disorder,2
6043,12438,93605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605,Classic Bartter syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,12437,93604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93604,Antenatal Bartter syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14111,99094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094,Laubry-Pezzi syndrome,21415,Morphological anomaly,36547,Disorder,1
6043,14086,99069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99069,Univentricular heart with single atrio-ventricular valve,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14080,99063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063,Shone complex,21401,Malformation syndrome,36547,Disorder,2
6043,14142,99125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125,Congenital total pulmonary venous return anomaly,21415,Morphological anomaly,36547,Disorder,2
6043,14112,99095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095,Congenital Gerbode defect,21415,Morphological anomaly,36547,Disorder,1
6043,14164,99147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147,Acquired von Willebrand syndrome,21394,Disease,36547,Disorder,2
6043,14158,99141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141,Lymphedema-posterior choanal atresia syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,14202,99329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329,"48,XYYY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,14203,99330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330,"49,XYYYY syndrome",21401,Malformation syndrome,36547,Disorder,2
6043,14230,99657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657,"Primary dystonia, DYT2 type",21394,Disease,36547,Disorder,1
6043,14212,99429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429,Complete androgen insensitivity syndrome,21394,Disease,36547,Disorder,2
6043,14215,99642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",21394,Disease,36547,Disorder,2
6043,14220,99647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647,Cheirospondyloenchondromatosis,21394,Disease,36547,Disorder,1
6043,14219,99646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,21394,Disease,36547,Disorder,1
6043,14261,99688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688,Dermotrichic syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,14245,99672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672,Fried's tooth and nail syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,14291,99718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718,Leber plus disease,21394,Disease,36547,Disorder,1
6043,14298,99725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725,Pituitary gigantism,21394,Disease,36547,Disorder,1
6043,14283,99710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710,Punctate acrokeratoderma freckle-like pigmentation,21394,Disease,36547,Disorder,2
6043,14323,99750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750,Atypical progressive supranuclear palsy syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14322,99749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749,Kostmann syndrome,21394,Disease,36547,Disorder,2
6043,14321,99748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99748,Pontiac fever,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14330,99757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757,Embryonal rhabdomyosarcoma,21450,Clinical subtype,36554,Subtype of disorder,23
6043,14329,99756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756,Alveolar rhabdomyosarcoma,21450,Clinical subtype,36554,Subtype of disorder,23
6043,14307,99734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734,Myotonia fluctuans,21394,Disease,36547,Disorder,1
6043,14304,99731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731,Isolated sulfite oxidase deficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14308,99735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735,Myotonia permanens,21394,Disease,36547,Disorder,1
6043,14309,99736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736,Acetazolamide-responsive myotonia,21394,Disease,36547,Disorder,1
6043,14314,99741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741,King-Denborough syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,14315,99742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742,Amish lethal microcephaly,21401,Malformation syndrome,36547,Disorder,2
6043,14318,99745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99745,Typhoid,21394,Disease,36547,Disorder,8
6043,13835,98818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818,Landau-Kleffner syndrome,21394,Disease,36547,Disorder,1
6043,13832,98815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815,"Benign childhood occipital epilepsy, Panayiotopoulos type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,13830,98813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,21450,Clinical subtype,36554,Subtype of disorder,2
6043,13828,98811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811,Paroxysmal exertion-induced dyskinesia,21394,Disease,36547,Disorder,2
6043,13827,98810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810,Paroxysmal non-kinesigenic dyskinesia,21394,Disease,36547,Disorder,1
6043,13826,98809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809,Paroxysmal kinesigenic dyskinesia,21394,Disease,36547,Disorder,1
6043,13825,98808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808,Autosomal dominant dopa-responsive dystonia,21394,Disease,36547,Disorder,1
6043,13824,98807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807,"Primary dystonia, DYT13 type",21394,Disease,36547,Disorder,2
6043,13855,98838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838,Primary mediastinal large B-cell lymphoma,21394,Disease,36547,Disorder,1
6043,13850,98833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833,Acute myeloblastic leukemia without maturation,21394,Disease,36547,Disorder,1
6043,13851,98834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834,Acute myeloblastic leukemia with maturation,21394,Disease,36547,Disorder,1
6043,13848,98831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831,Acute myeloid leukemia with 11q23 abnormalities,21394,Disease,36547,Disorder,1
6043,13849,98832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832,Acute myeloid leukemia with minimal differentiation,21394,Disease,36547,Disorder,1
6043,13846,98829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),21394,Disease,36547,Disorder,1
6043,13843,98826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826,Refractory anemia,21394,Disease,36547,Disorder,1
6043,13840,98823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823,Chronic myelomonocytic leukemia,21394,Disease,36547,Disorder,1
6043,13841,98824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824,Atypical chronic myeloid leukemia,21394,Disease,36547,Disorder,1
6043,13868,98851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851,Mast cell leukemia,21394,Disease,36547,Disorder,2
6043,13865,98848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848,Indolent systemic mastocytosis,21394,Disease,36547,Disorder,1
6043,13867,98850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850,Aggressive systemic mastocytosis,21394,Disease,36547,Disorder,1
6043,13866,98849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849,Systemic mastocytosis with associated hematologic neoplasm,21394,Disease,36547,Disorder,1
6043,13861,98844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844,"Classic Hodgkin lymphoma, mixed cellularity type",21457,Histopathological subtype,36554,Subtype of disorder,1
6043,13860,98843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843,"Classic Hodgkin lymphoma, nodular sclerosis type",21457,Histopathological subtype,36554,Subtype of disorder,1
6043,13863,98846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",21457,Histopathological subtype,36554,Subtype of disorder,1
6043,13862,98845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",21457,Histopathological subtype,36554,Subtype of disorder,1
6043,13859,98842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842,Lymphomatoid papulosis,21394,Disease,36547,Disorder,1
6043,13858,98841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841,Anaplastic large cell lymphoma,21394,Disease,36547,Disorder,1
6043,13885,98868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868,Southeast Asian ovalocytosis,21394,Disease,36547,Disorder,1
6043,13886,98869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869,Congenital dyserythropoietic anemia type I,21394,Disease,36547,Disorder,2
6043,13887,98870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870,Congenital dyserythropoietic anemia type III,21394,Disease,36547,Disorder,2
6043,13880,98863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863,X-linked Emery-Dreifuss muscular dystrophy,21443,Etiological subtype,36554,Subtype of disorder,3
6043,13873,98856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856,Charcot-Marie-Tooth disease type 2B1,21394,Disease,36547,Disorder,1
6043,13898,98881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881,Familial dysfibrinogenemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13896,98879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879,Hemophilia B,21394,Disease,36547,Disorder,100
6043,13890,98873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873,Congenital dyserythropoietic anemia type II,21394,Disease,36547,Disorder,1
6043,13895,98878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878,Hemophilia A,21394,Disease,36547,Disorder,110
6043,13912,98895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895,Becker muscular dystrophy,21394,Disease,36547,Disorder,13
6043,13913,98896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896,Duchenne muscular dystrophy,21394,Disease,36547,Disorder,15
6043,13919,98902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902,Amish nemaline myopathy,21394,Disease,36547,Disorder,2
6043,13907,98890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890,Early-onset X-linked optic atrophy,21394,Disease,36547,Disorder,2
6043,13910,98893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893,Congenital muscular dystrophy type 1B,21394,Disease,36547,Disorder,2
6043,13909,98892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892,Periventricular nodular heterotopia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13929,98912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912,"Late-onset distal myopathy, Markesbery-Griggs type",21394,Disease,36547,Disorder,2
6043,13933,98916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916,Acute inflammatory demyelinating polyradiculoneuropathy,21394,Disease,36547,Disorder,1
6043,13925,98908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908,Neutral lipid storage myopathy,21394,Disease,36547,Disorder,2
6043,13924,98907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907,Neutral lipid storage disease with ichthyosis,21394,Disease,36547,Disorder,1
6043,13926,98909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909,Desminopathy,21394,Disease,36547,Disorder,1
6043,13950,98933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933,"Multiple system atrophy, parkinsonian type",21450,Clinical subtype,36554,Subtype of disorder,1
6043,13951,98934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934,Huntington disease-like 2,21394,Disease,36547,Disorder,2
6043,13936,98919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919,Miller Fisher syndrome,21394,Disease,36547,Disorder,2
6043,13937,98920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920,Spinal muscular atrophy with respiratory distress type 1,21394,Disease,36547,Disorder,2
6043,13955,98938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938,Colobomatous microphthalmia,21401,Malformation syndrome,36547,Disorder,1
6043,13966,98949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949,Complete cryptophthalmia,21450,Clinical subtype,36554,Subtype of disorder,2
6043,13967,98950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950,Partial cryptophthalmia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13965,98948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948,Congenital symblepharon,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13974,98957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957,Gelatinous drop-like corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13972,98955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955,Lisch epithelial corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13971,98954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954,Meesmann corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13981,98964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964,Lattice corneal dystrophy type I,21394,Disease,36547,Disorder,1
6043,13980,98963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963,Granular corneal dystrophy type II,21394,Disease,36547,Disorder,1
6043,13979,98962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962,Granular corneal dystrophy type I,21394,Disease,36547,Disorder,1
6043,13978,98961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961,Reis-Bücklers corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13977,98960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960,Thiel-Behnke corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13976,98959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959,Subepithelial mucinous corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13988,98971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971,Posterior amorphous corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13989,98972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972,Central cloudy dystrophy of François,21394,Disease,36547,Disorder,2
6043,13990,98973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973,Posterior polymorphous corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13991,98974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974,Fuchs endothelial corneal dystrophy,21394,Disease,36547,Disorder,1
6043,13984,98967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967,Schnyder corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13986,98969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969,Macular corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13987,98970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970,Fleck corneal dystrophy,21394,Disease,36547,Disorder,2
6043,13992,98975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98975,Congenital hereditary endothelial dystrophy type I,21394,Disease,36547,Disorder,2
6043,13993,98976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976,Congenital glaucoma,21394,Disease,36547,Disorder,18
6043,13994,98977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977,Juvenile glaucoma,21394,Disease,36547,Disorder,1
6043,14017,99000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000,Adult-onset foveomacular vitelliform dystrophy,21394,Disease,36547,Disorder,1
6043,14030,99013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013,Spastic paraplegia type 7,21394,Disease,36547,Disorder,1
6043,14031,99014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014,X-linked Charcot-Marie-Tooth disease type 5,21394,Disease,36547,Disorder,2
6043,14032,99015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015,Spastic paraplegia type 2,21394,Disease,36547,Disorder,2
6043,14044,99027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027,Adult-onset autosomal dominant leukodystrophy,21394,Disease,36547,Disorder,2
6043,14059,99042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042,Congenitally uncorrected transposition of the great arteries with coarctation,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14067,99050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050,Abnormal origin of right or left pulmonary artery from the aorta,21415,Morphological anomaly,36547,Disorder,2
6043,13623,98606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606,Syndromic orbital border hypoplasia,21401,Malformation syndrome,36547,Disorder,2
6043,13572,98555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555,Microphthalmia-anophthalmia-coloboma,36561,Category,36540,Group of disorders,40
6043,13693,98676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676,Autosomal recessive isolated optic atrophy,21394,Disease,36547,Disorder,2
6043,13690,98673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673,"Autosomal dominant optic atrophy, classic form",21394,Disease,36547,Disorder,4
6043,13689,98672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672,Autosomal dominant optic atrophy,21436,Clinical group,36540,Group of disorders,4
6043,13644,98627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627,Posterior corneal dystrophy,36561,Category,36540,Group of disorders,1
6043,13643,98626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626,Stromal corneal dystrophy,36561,Category,36540,Group of disorders,1
6043,13642,98625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625,Superficial corneal dystrophy,36561,Category,36540,Group of disorders,2
6043,13732,98715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98715,Uveitis,36561,Category,36540,Group of disorders,2
6043,13740,98723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723,Hypoplastic right heart syndrome,21436,Clinical group,36540,Group of disorders,17
6043,13808,98791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,21394,Disease,36547,Disorder,2
6043,13823,98806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806,"Primary dystonia, DYT6 type",21394,Disease,36547,Disorder,2
6043,13822,98805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805,"Primary dystonia, DYT4 type",21394,Disease,36547,Disorder,2
6043,13801,98784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784,Autosomal dominant nocturnal frontal lobe epilepsy,21394,Disease,36547,Disorder,2
6043,13781,98764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764,Spinocerebellar ataxia type 27,21394,Disease,36547,Disorder,2
6043,13780,98763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763,Spinocerebellar ataxia type 14,21394,Disease,36547,Disorder,2
6043,13783,98766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766,Spinocerebellar ataxia type 5,21394,Disease,36547,Disorder,2
6043,13782,98765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765,Spinocerebellar ataxia type 4,21394,Disease,36547,Disorder,1
6043,13777,98760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760,Spinocerebellar ataxia type 8,21394,Disease,36547,Disorder,1
6043,13776,98759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759,Spinocerebellar ataxia type 17,21394,Disease,36547,Disorder,4
6043,13779,98762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762,Spinocerebellar ataxia type 12,21394,Disease,36547,Disorder,2
6043,13778,98761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761,Spinocerebellar ataxia type 10,21394,Disease,36547,Disorder,1
6043,13789,98772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772,Spinocerebellar ataxia type 19/22,21394,Disease,36547,Disorder,2
6043,13788,98771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771,Spinocerebellar ataxia type 18,21394,Disease,36547,Disorder,2
6043,13790,98773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773,Spinocerebellar ataxia type 21,21394,Disease,36547,Disorder,2
6043,13785,98768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768,Spinocerebellar ataxia type 13,21394,Disease,36547,Disorder,2
6043,13784,98767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767,Spinocerebellar ataxia type 11,21394,Disease,36547,Disorder,2
6043,13786,98769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769,Spinocerebellar ataxia type 15/16,21394,Disease,36547,Disorder,2
6043,13772,98755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755,Spinocerebellar ataxia type 1,21394,Disease,36547,Disorder,1
6043,13773,98756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756,Spinocerebellar ataxia type 2,21394,Disease,36547,Disorder,1
6043,13774,98757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757,Spinocerebellar ataxia type 3,21394,Disease,36547,Disorder,3
6043,13775,98758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758,Spinocerebellar ataxia type 6,21394,Disease,36547,Disorder,2
6043,13323,98306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306,Familial partial lipodystrophy,21436,Clinical group,36540,Group of disorders,1
6043,28815,573253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253,Split cord malformation type II,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28824,574957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,21394,Disease,36547,Disorder,1
6043,28823,574918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918,Predisposition to severe viral infection due to IRF7 deficiency,21394,Disease,36547,Disorder,2
6043,13392,98375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98375,Autoimmune hemolytic anemia,21436,Clinical group,36540,Group of disorders,4
6043,28816,573278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278,Split cord malformation,21415,Morphological anomaly,36547,Disorder,1
6043,13499,98482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98482,Idiopathic inflammatory myopathy,36561,Category,36540,Group of disorders,1
6043,28738,572385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385,Brachydactyly type B1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28736,572361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,13445,98428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428,Secondary polycythemia,36561,Category,36540,Group of disorders,1
6043,28746,572428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,21394,Disease,36547,Disorder,2
6043,13451,98434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,21394,Disease,36547,Disorder,2
6043,28754,572543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543,RFVT2-related riboflavin transporter deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28755,572550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550,RFVT3-related riboflavin transporter deficiency,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28766,572773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773,Microcephaly-short stature-limb abnormalities syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,28767,572798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798,WARS2-related combined oxidative phosphorylation defect,21394,Disease,36547,Disorder,2
6043,28764,572761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,21401,Malformation syndrome,36547,Disorder,1
6043,28765,572768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768,Microcephaly-micromelia syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,13540,98523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523,Non-syndromic pontocerebellar hypoplasia,21436,Clinical group,36540,Group of disorders,1
6043,28726,572013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,28732,572333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,21401,Malformation syndrome,36547,Disorder,1
6043,28735,572354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28678,570762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762,Infective endocarditis,21394,Disease,36547,Disorder,4
6043,28677,570491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491,QRSL1-related combined oxidative phosphorylation defect,21394,Disease,36547,Disorder,1
6043,28676,570470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470,Ricin poisoning,21394,Disease,36547,Disorder,2
6043,28675,570438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438,HHV-8-associated multicentric Castleman disease,21450,Clinical subtype,36554,Subtype of disorder,1
6043,28674,570431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431,Idiopathic multicentric Castleman disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,28673,570422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422,Galactose mutarotase deficiency,21394,Disease,36547,Disorder,3
6043,28672,570371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371,Transient antenatal Bartter syndrome,21450,Clinical subtype,36554,Subtype of disorder,2
6043,13514,98497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497,Genetic peripheral neuropathy,36561,Category,36540,Group of disorders,1
6043,15005,104075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075,Adenocarcinoma of the small instestine,21394,Disease,36547,Disorder,25
6043,14999,104008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008,Short bowel syndrome,21436,Clinical group,36540,Group of disorders,1
6043,14991,103918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918,Tropical pancreatitis,21394,Disease,36547,Disorder,1
6043,14986,103910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910,Congenital enterocyte heparan sulfate deficiency,21394,Disease,36547,Disorder,2
6043,14984,103908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908,Congenital sodium diarrhea,21394,Disease,36547,Disorder,2
6043,14985,103909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909,Trehalase deficiency,21394,Disease,36547,Disorder,2
6043,14983,103907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907,Chronic diarrhea due to glucoamylase deficiency,21394,Disease,36547,Disorder,1
6043,14981,102724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,21394,Disease,36547,Disorder,1
6043,14933,101997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997,Primary immunodeficiency,36561,Category,36540,Group of disorders,14
6043,14895,101959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101959,Chronic primary adrenal insufficiency,36561,Category,36540,Group of disorders,2
6043,14826,101150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150,Autosomal recessive dopa-responsive dystonia,21394,Disease,36547,Disorder,2
6043,14822,101111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111,Spinocerebellar ataxia type 25,21394,Disease,36547,Disorder,2
6043,14823,101112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112,Spinocerebellar ataxia type 26,21394,Disease,36547,Disorder,2
6043,14820,101109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109,Spinocerebellar ataxia type 28,21394,Disease,36547,Disorder,1
6043,14821,101110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110,Spinocerebellar ataxia type 20,21394,Disease,36547,Disorder,2
6043,14819,101108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108,Spinocerebellar ataxia type 23,21394,Disease,36547,Disorder,2
6043,14841,101330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330,Porphyria cutanea tarda,21394,Disease,36547,Disorder,4
6043,14796,101085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085,Charcot-Marie-Tooth disease type 1F,21394,Disease,36547,Disorder,1
6043,14792,101081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081,Charcot-Marie-Tooth disease type 1A,21394,Disease,36547,Disorder,3
6043,14793,101082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082,Charcot-Marie-Tooth disease type 1B,21394,Disease,36547,Disorder,1
6043,14794,101083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083,Charcot-Marie-Tooth disease type 1C,21394,Disease,36547,Disorder,1
6043,14788,101077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077,X-linked Charcot-Marie-Tooth disease type 3,21394,Disease,36547,Disorder,2
6043,14789,101078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078,X-linked Charcot-Marie-Tooth disease type 4,21394,Disease,36547,Disorder,2
6043,14786,101075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075,X-linked Charcot-Marie-Tooth disease type 1,21394,Disease,36547,Disorder,1
6043,14787,101076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076,X-linked Charcot-Marie-Tooth disease type 2,21394,Disease,36547,Disorder,2
6043,14813,101102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102,Charcot-Marie-Tooth disease type 2H,21394,Disease,36547,Disorder,2
6043,14812,101101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101,Charcot-Marie-Tooth disease type 2B2,21394,Disease,36547,Disorder,2
6043,14808,101097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,21394,Disease,36547,Disorder,1
6043,14752,101041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041,Familial hypofibrinogenemia,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14757,101046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046,Autosomal dominant epilepsy with auditory features,21394,Disease,36547,Disorder,1
6043,14779,101068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068,Congenital stromal corneal dystrophy,21394,Disease,36547,Disorder,2
6043,14720,101009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009,Autosomal dominant spastic paraplegia type 29,21394,Disease,36547,Disorder,2
6043,14721,101010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010,Autosomal spastic paraplegia type 30,21394,Disease,36547,Disorder,2
6043,14722,101011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011,Autosomal dominant spastic paraplegia type 31,21394,Disease,36547,Disorder,1
6043,14727,101016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016,Romano-Ward syndrome,21394,Disease,36547,Disorder,1
6043,14750,101039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039,Female restricted epilepsy with intellectual disability,21394,Disease,36547,Disorder,2
6043,14739,101028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028,Transaldolase deficiency,21394,Disease,36547,Disorder,2
6043,14695,100984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984,Autosomal dominant spastic paraplegia type 3,21394,Disease,36547,Disorder,2
6043,14691,100980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980,Autosomal dominant pure spastic paraplegia,21436,Clinical group,36540,Group of disorders,3
6043,14690,100979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979,Autosomal dominant complex spastic paraplegia,21436,Clinical group,36540,Group of disorders,2
6043,14689,100978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,21401,Malformation syndrome,36547,Disorder,1
6043,14702,100991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991,Autosomal dominant spastic paraplegia type 10,21394,Disease,36547,Disorder,2
6043,14700,100989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989,Autosomal dominant spastic paraplegia type 8,21394,Disease,36547,Disorder,2
6043,14699,100988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988,Autosomal dominant spastic paraplegia type 6,21394,Disease,36547,Disorder,2
6043,14697,100986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986,Autosomal recessive spastic paraplegia type 5A,21394,Disease,36547,Disorder,1
6043,14696,100985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985,Autosomal dominant spastic paraplegia type 4,21394,Disease,36547,Disorder,1
6043,14710,100999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999,Autosomal dominant spastic paraplegia type 19,21394,Disease,36547,Disorder,2
6043,14711,101000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000,Autosomal recessive spastic paraplegia type 20,21394,Disease,36547,Disorder,2
6043,14708,100997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997,X-linked spastic paraplegia type 16,21394,Disease,36547,Disorder,2
6043,14709,100998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998,Autosomal dominant spastic paraplegia type 17,21394,Disease,36547,Disorder,2
6043,14706,100995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995,Autosomal recessive spastic paraplegia type 14,21394,Disease,36547,Disorder,2
6043,14707,100996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996,Autosomal recessive spastic paraplegia type 15,21394,Disease,36547,Disorder,2
6043,14704,100993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993,Autosomal dominant spastic paraplegia type 12,21394,Disease,36547,Disorder,2
6043,14705,100994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994,Autosomal dominant spastic paraplegia type 13,21394,Disease,36547,Disorder,2
6043,14718,101007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007,Autosomal recessive spastic paraplegia type 27,21394,Disease,36547,Disorder,2
6043,14719,101008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008,Autosomal recessive spastic paraplegia type 28,21394,Disease,36547,Disorder,2
6043,14716,101005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005,Autosomal recessive spastic paraplegia type 25,21394,Disease,36547,Disorder,2
6043,14717,101006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006,Autosomal recessive spastic paraplegia type 26,21394,Disease,36547,Disorder,2
6043,14714,101003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003,Autosomal recessive spastic paraplegia type 23,21394,Disease,36547,Disorder,2
6043,14715,101004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004,Autosomal recessive spastic paraplegia type 24,21394,Disease,36547,Disorder,2
6043,14712,101001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001,Autosomal recessive spastic paraplegia type 21,21394,Disease,36547,Disorder,2
6043,14660,100088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088,Thyroid carcinoma,36561,Category,36540,Group of disorders,27
6043,14657,100085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085,Primary hepatic neuroendocrine carcinoma,21394,Disease,36547,Disorder,2
6043,14659,100087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087,Thyroid tumor,36561,Category,36540,Group of disorders,4
6043,14678,100924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924,Porphyria due to ALA dehydratase deficiency,21394,Disease,36547,Disorder,1
6043,14684,100973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973,FRAXE intellectual disability,21394,Disease,36547,Disorder,1
6043,14685,100974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974,FRAXF syndrome,21394,Disease,36547,Disorder,1
6043,14687,100976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976,Bathing suit ichthyosis,21394,Disease,36547,Disorder,2
6043,14627,100054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054,F12-related hereditary angioedema with normal C1Inh,21443,Etiological subtype,36554,Subtype of disorder,1
6043,14624,100051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051,Hereditary angioedema type 2,21443,Etiological subtype,36554,Subtype of disorder,1
6043,14630,100057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,21394,Disease,36547,Disorder,1
6043,14643,100070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070,Progressive non-fluent aphasia,21394,Disease,36547,Disorder,2
6043,14646,100073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073,Neurogenic thoracic outlet syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14647,100075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075,Neuroendocrine tumor of stomach,21394,Disease,36547,Disorder,4
6043,14644,100071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071,Mosaic trisomy 3,21401,Malformation syndrome,36547,Disorder,2
6043,14593,100020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020,Refractory anemia with excess blasts type 2,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14592,100019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019,Refractory anemia with excess blasts type 1,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14595,100022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022,Extramedullary soft tissue plasmacytoma,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14594,100021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021,Primary plasmacytoma of the bone,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14597,100024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024,Mu-heavy chain disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14599,100026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026,Gamma-heavy chain disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14598,100025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025,Alpha-heavy chain disease,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14616,100043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,21394,Disease,36547,Disorder,2
6043,14617,100044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,21394,Disease,36547,Disorder,2
6043,14618,100045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,21394,Disease,36547,Disorder,2
6043,14619,100046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,21394,Disease,36547,Disorder,2
6043,14623,100050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050,Hereditary angioedema type 1,21443,Etiological subtype,36554,Subtype of disorder,2
6043,14585,100012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012,Lissencephaly with cerebellar hypoplasia type B,21401,Malformation syndrome,36547,Disorder,2
6043,14586,100013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013,Lissencephaly with cerebellar hypoplasia type C,21401,Malformation syndrome,36547,Disorder,2
6043,14581,100008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008,ACys amyloidosis,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14579,100006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006,"ABeta amyloidosis, Dutch type",21450,Clinical subtype,36554,Subtype of disorder,2
6043,14568,99995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99995,Complex regional pain syndrome type 1,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14567,99994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99994,Complex regional pain syndrome type 2,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14562,99989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989,Intermediate DEND syndrome,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14554,99981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99981,Apnea of prematurity,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14551,99978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978,Klatskin tumor,21394,Disease,36547,Disorder,2
6043,14550,99977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977,Squamous cell carcinoma of the esophagus,21394,Disease,36547,Disorder,28
6043,14549,99976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976,Adenocarcinoma of the esophagus,21394,Disease,36547,Disorder,28
6043,14544,99971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971,Well-differentiated liposarcoma,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,14542,99969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969,Pleomorphic liposarcoma,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,14543,99970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970,Dedifferentiated liposarcoma,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,14540,99967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967,Myxoid/round cell liposarcoma,21457,Histopathological subtype,36554,Subtype of disorder,2
6043,14539,99966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966,Atypical teratoid rhabdoid tumor,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14528,99955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955,Charcot-Marie-Tooth disease type 4B1,21394,Disease,36547,Disorder,2
6043,14529,99956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956,Charcot-Marie-Tooth disease type 4B2,21394,Disease,36547,Disorder,1
6043,14521,99948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948,Charcot-Marie-Tooth disease type 4A,21394,Disease,36547,Disorder,1
6043,14520,99947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,21394,Disease,36547,Disorder,1
6043,14523,99950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950,Charcot-Marie-Tooth disease type 4D,21394,Disease,36547,Disorder,1
6043,14522,99949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949,Charcot-Marie-Tooth disease type 4C,21394,Disease,36547,Disorder,1
6043,14525,99952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952,Charcot-Marie-Tooth disease type 4F,21394,Disease,36547,Disorder,1
6043,14527,99954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954,Charcot-Marie-Tooth disease type 4H,21394,Disease,36547,Disorder,2
6043,14526,99953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953,Charcot-Marie-Tooth disease type 4G,21394,Disease,36547,Disorder,2
6043,14513,99940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,21394,Disease,36547,Disorder,2
6043,14512,99939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,21394,Disease,36547,Disorder,1
6043,14514,99941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99941,Autosomal dominant Charcot-Marie-Tooth disease type 2G,21394,Disease,36547,Disorder,2
6043,14517,99944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,21394,Disease,36547,Disorder,2
6043,14519,99946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,21394,Disease,36547,Disorder,2
6043,14518,99945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,21394,Disease,36547,Disorder,2
6043,14504,99931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931,Idiopathic pulmonary hemosiderosis,21394,Disease,36547,Disorder,2
6043,14511,99938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,21394,Disease,36547,Disorder,2
6043,14498,99925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925,Invasive mole,21394,Disease,36547,Disorder,1
6043,14499,99926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926,Gestational choriocarcinoma,21394,Disease,36547,Disorder,1
6043,14500,99927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927,Hydatidiform mole,21394,Disease,36547,Disorder,1
6043,14501,99928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928,Placental site trophoblastic tumor,21394,Disease,36547,Disorder,3
6043,14491,99918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99918,Streptococcal toxic-shock syndrome,21443,Etiological subtype,36554,Subtype of disorder,4
6043,14490,99917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",21394,Disease,36547,Disorder,1
6043,14489,99916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916,Malignant Sertoli-Leydig cell tumor of the ovary,21394,Disease,36547,Disorder,1
6043,14488,99915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915,Maligant granulosa cell tumor of the ovary,21394,Disease,36547,Disorder,1
6043,14492,99919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99919,Staphylococcal toxic-shock syndrome,21443,Etiological subtype,36554,Subtype of disorder,2
6043,14485,99912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912,Malignant dysgerminomatous germ cell tumor of the ovary,21394,Disease,36547,Disorder,2
6043,14474,99901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901,Acyl-CoA dehydrogenase 9 deficiency,21394,Disease,36547,Disorder,2
6043,14478,99905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99905,Streptobacillary rat-bite fever,21443,Etiological subtype,36554,Subtype of disorder,1
6043,14476,99903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99903,Spirillary rat-bite fever,21443,Etiological subtype,36554,Subtype of disorder,1
6043,14465,99892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892,ACTH-dependent Cushing syndrome,21436,Clinical group,36540,Group of disorders,2
6043,14471,99898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,21394,Disease,36547,Disorder,2
6043,14452,99879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879,Familial isolated hyperparathyroidism,21394,Disease,36547,Disorder,2
6043,14453,99880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880,Hyperparathyroidism-jaw tumor syndrome,21394,Disease,36547,Disorder,2
6043,14462,99889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889,Cushing syndrome due to ectopic ACTH secretion,21394,Disease,36547,Disorder,1
6043,14458,99885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885,Permanent neonatal diabetes mellitus,21394,Disease,36547,Disorder,8
6043,14459,99886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886,Transient neonatal diabetes mellitus,21394,Disease,36547,Disorder,2
6043,14438,99865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865,Spermatocytic seminoma,21394,Disease,36547,Disorder,2
6043,14441,99868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99868,Thymic carcinoma,21394,Disease,36547,Disorder,1
6043,14440,99867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99867,Thymoma,21394,Disease,36547,Disorder,3
6043,14442,99869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869,Thymic neuroendocrine carcinoma,21394,Disease,36547,Disorder,1
6043,14422,99849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849,Glycogen storage disease due to muscle beta-enolase deficiency,21394,Disease,36547,Disorder,2
6043,14418,99845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845,Genetic recurrent myoglobinuria,21394,Disease,36547,Disorder,1
6043,14419,99846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846,Autosomal dominant myoglobinuria,21394,Disease,36547,Disorder,2
6043,14416,99843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843,Leukocyte adhesion deficiency type II,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14417,99844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844,Leukocyte adhesion deficiency type III,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14426,99853,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853,Ovarioleukodystrophy,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14425,99852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852,Ravine syndrome,21394,Disease,36547,Disorder,2
6043,14405,99832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832,Resistance to thyrotropin-releasing hormone syndrome,21394,Disease,36547,Disorder,2
6043,14402,99829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99829,Yellow fever,21394,Disease,36547,Disorder,2
6043,14401,99828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99828,Dengue fever,21394,Disease,36547,Disorder,26
6043,14400,99827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99827,Crimean-Congo hemorrhagic fever,21394,Disease,36547,Disorder,2
6043,14415,99842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842,Leukocyte adhesion deficiency type I,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14385,99812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812,LIG4 syndrome,21394,Disease,36547,Disorder,2
6043,14397,99824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99824,Lassa fever,21394,Disease,36547,Disorder,2
6043,14398,99825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825,Nipah virus disease,21394,Disease,36547,Disorder,2
6043,14399,99826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99826,Marburg hemorrhagic fever,21394,Disease,36547,Disorder,2
6043,14371,99798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798,Oligodontia,21415,Morphological anomaly,36547,Disorder,1
6043,14375,99802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802,Hemimegalencephaly,21401,Malformation syndrome,36547,Disorder,1
6043,14376,99803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803,Haddad syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,14379,99806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806,Oculootodental syndrome,21401,Malformation syndrome,36547,Disorder,2
6043,14380,99807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807,PEHO-like syndrome,21394,Disease,36547,Disorder,2
6043,14383,99810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810,Familial porencephaly,21443,Etiological subtype,36554,Subtype of disorder,1
6043,14362,99789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789,Dentin dysplasia type I,21450,Clinical subtype,36554,Subtype of disorder,1
6043,14364,99791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791,Dentin dysplasia type II,21450,Clinical subtype,36554,Subtype of disorder,2
6043,14365,99792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792,Dentin dysplasia-sclerotic bones syndrome,21394,Disease,36547,Disorder,2
6043,14345,99772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772,Cleft velum,21415,Morphological anomaly,36547,Disorder,1
6043,14344,99771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771,Bifid uvula,21415,Morphological anomaly,36547,Disorder,1
6043,14349,99776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776,Mosaic trisomy 9,21401,Malformation syndrome,36547,Disorder,2