Orphanet_code,Orphanet_name,UMLS_CUI,UMLS_name,ICD_category_range,ICD_category_name
10,"48,XXYY syndrome",C0022735,Klinefelter Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
100,Ataxia-telangiectasia,C0004135,Ataxia Telangiectasia,,
100,Ataxia-telangiectasia,C1876175,Ataxia-Telangiectasia Variant,,
1000,Ocular albinism with late-onset sensorineural deafness,C1845069,"ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",,
100006,"ABeta amyloidosis, Dutch type",C0268393,Familial Cerebral Amyloid Angiopathy,,
100006,"ABeta amyloidosis, Dutch type",C2751536,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",,
100006,"ABeta amyloidosis, Dutch type",C2931672,"Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",,
100008,ACys amyloidosis,C1510489,"Cerebral Amyloid Angiopathy, Hereditary",,
100008,ACys amyloidosis,C1527338,"Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",,
100019,Refractory anemia with excess blasts type 1,C1318550,Refractory anemia with excess blasts I,C00-D48,Neoplasms
100025,Alpha-heavy chain disease,C0021071,Immunoproliferative Small Intestinal Disease,C00-D48,Neoplasms
100026,Gamma-heavy chain disease,C0018854,gamma-Chain Disease,C00-D48,Neoplasms
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,C1847902,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",,
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,C1842237,"Charcot-Marie-Tooth Disease, Dominant Intermediate C",,
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,C1843075,"Charcot-Marie-Tooth Disease, Dominant Intermediate D",,
100050,Hereditary angioedema type 1,C0019243,"Angioedemas, Hereditary",,
100050,Hereditary angioedema type 1,C0398775,Hereditary C1 esterase inhibitor deficiency - deficient factor,,
100050,Hereditary angioedema type 1,C1862892,Hereditary Angioedema Type II,,
100050,Hereditary angioedema type 1,C2717906,Hereditary Angioedema Type I,,
100051,Hereditary angioedema type 2,C0398776,Hereditary C1 esterase inhibitor deficiency - dysfunctional factor,,
100051,Hereditary angioedema type 2,C1862892,Hereditary Angioedema Type II,,
100054,F12-related hereditary angioedema with normal C1Inh,C1857728,Hereditary Angioedema Type III,,
100054,F12-related hereditary angioedema with normal C1Inh,C1960459,Hereditary angioedema with normal C1 esterase inhibitor activity,,
100070,Progressive non-fluent aphasia,C0751706,Primary Progressive Nonfluent Aphasia,,
100087,Thyroid tumor,C0040136,Thyroid Neoplasm,,
100088,Thyroid carcinoma,C0549473,Thyroid carcinoma,,
1001,2q37 microdeletion syndrome,C2931817,Chromosome 2q37 deletion syndrome,,
100924,Porphyria due to ALA dehydratase deficiency,C0268328,Porphobilinogen synthase deficiency,,
100924,Porphyria due to ALA dehydratase deficiency,C2748608,"LEAD POISONING, SUSCEPTIBILITY TO",,
100973,FRAXE intellectual disability,C0751157,FRAXE Syndrome,,
100976,Bathing suit ichthyosis,C4511230,Bathing suit ichthyosis,,
100984,Autosomal dominant spastic paraplegia type 3,C2931355,"Spastic paraplegia 3, autosomal dominant",,
100985,Autosomal dominant spastic paraplegia type 4,C1866855,"Spastic paraplegia 4, autosomal dominant",,
100986,Autosomal recessive spastic paraplegia type 5A,C1849115,"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",,
100986,Autosomal recessive spastic paraplegia type 5A,C2931356,"Spastic paraplegia type 5A, recessive",,
100988,Autosomal dominant spastic paraplegia type 6,C1838192,"SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)",,
100989,Autosomal dominant spastic paraplegia type 8,C1863704,"Spastic paraplegia 8, autosomal dominant",,
100991,Autosomal dominant spastic paraplegia type 10,C1858712,"Spastic paraplegia 10, autosomal dominant",,
100993,Autosomal dominant spastic paraplegia type 12,C1858106,"SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)",,
100994,Autosomal dominant spastic paraplegia type 13,C1854467,"Spastic paraplegia 13, autosomal dominant",,
100995,Autosomal recessive spastic paraplegia type 14,C1854568,"SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)",,
100996,Autosomal recessive spastic paraplegia type 15,C1849128,"Spastic paraplegia 15, autosomal recessive",,
100997,X-linked spastic paraplegia type 16,C1846046,"SPASTIC PARAPLEGIA 16, X-LINKED (disorder)",,
100998,Autosomal dominant spastic paraplegia type 17,C2931276,Spastic paraplegia 17,,
100999,Autosomal dominant spastic paraplegia type 19,C1846685,"SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)",,
101,Dentatorubral pallidoluysian atrophy,C0751781,Dentatorubral-Pallidoluysian Atrophy,,
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,C1863093,Alopecia congenita keratosis palmoplantaris,,
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,C3151468,PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1,,
101000,Autosomal recessive spastic paraplegia type 20,C0393559,Troyer syndrome,,
101001,Autosomal recessive spastic paraplegia type 21,C1855346,MAST SYNDROME,,
101003,Autosomal recessive spastic paraplegia type 23,C0796019,SPASTIC PARAPLEGIA 23 (disorder),,
101004,Autosomal recessive spastic paraplegia type 24,C1843569,"SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder)",,
101005,Autosomal recessive spastic paraplegia type 25,C2936860,"Spastic paraplegia 25, autosomal recessive",,
101006,Autosomal recessive spastic paraplegia type 26,C1836632,"SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)",,
101007,Autosomal recessive spastic paraplegia type 27,C1836899,"SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder)",,
101008,Autosomal recessive spastic paraplegia type 28,C1836295,"SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)",,
101009,Autosomal dominant spastic paraplegia type 29,C1857855,"SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT",,
101010,Autosomal spastic paraplegia type 30,C1835896,"SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",,
101011,Autosomal dominant spastic paraplegia type 31,C1853247,"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",,
101016,Romano-Ward syndrome,C0035828,Romano-Ward Syndrome,,
101016,Romano-Ward syndrome,C1843738,"LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO",,
101016,Romano-Ward syndrome,C3277700,"LONG QT SYNDROME 1/2, DIGENIC (disorder)",,
101028,Transaldolase deficiency,C1291329,Transaldolase Deficiency,,
101039,Female restricted epilepsy with intellectual disability,C1848137,"EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",,
101041,Familial hypofibrinogenemia,C2584774,Congenital hypofibrinogenemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
101046,Autosomal dominant epilepsy with auditory features,C1838062,"EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",,
101068,Congenital stromal corneal dystrophy,C1864738,"Corneal Dystrophy, Congenital Stromal",,
101075,X-linked Charcot-Marie-Tooth disease type 1,C0393808,"Charcot-Marie-Tooth disease, X-linked, 1",,
101077,X-linked Charcot-Marie-Tooth disease type 3,C1844865,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)",,
101078,X-linked Charcot-Marie-Tooth disease type 4,C0795910,COWCHOCK SYNDROME,,
101081,Charcot-Marie-Tooth disease type 1A,C0270911,"Charcot-Marie-Tooth Disease, Type Ia (disorder)",,
101082,Charcot-Marie-Tooth disease type 1B,C0007959,Charcot-Marie-Tooth Disease,G00-G99,Diseases of the nervous system
101082,Charcot-Marie-Tooth disease type 1B,C0270912,"Charcot-Marie-Tooth Disease, Type Ib",,
101082,Charcot-Marie-Tooth disease type 1B,C0751036,Hereditary Motor and Sensory Neuropathy Type I,,
101083,Charcot-Marie-Tooth disease type 1C,C0270913,"Charcot-Marie-Tooth disease, Type 1C",,
101085,Charcot-Marie-Tooth disease type 1F,C1843164,"Charcot-Marie-Tooth disease, demyelinating, Type 1F",,
101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,C1842983,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",,
101101,Charcot-Marie-Tooth disease type 2B2,C1854150,"Charcot-Marie-Tooth disease, Type 2B2",,
101108,Spinocerebellar ataxia type 23,C1853250,SPINOCEREBELLAR ATAXIA 23,,
101109,Spinocerebellar ataxia type 28,C1853249,SPINOCEREBELLAR ATAXIA 28,,
101110,Spinocerebellar ataxia type 20,C1837541,SPINOCEREBELLAR ATAXIA 20,,
101111,Spinocerebellar ataxia type 25,C1837518,Spinocerebellar ataxia 25,,
101112,Spinocerebellar ataxia type 26,C1836395,SPINOCEREBELLAR ATAXIA 26,,
101150,Autosomal recessive dopa-responsive dystonia,C2673535,"DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",,
101330,Porphyria cutanea tarda,C0162566,Porphyria Cutanea Tarda,E00-E90,"Endocrine, nutritional and metabolic diseases"
1018,X-linked Alport syndrome-diffuse leiomyomatosis,C1839884,"Leiomyomatosis, esophageal and vulval, with nephropathy",,
101959,Chronic primary adrenal insufficiency,C0001403,Addison Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
101997,Primary immunodeficiency,C0398686,Primary immune deficiency disorder,,
102,Multiple system atrophy,C0020651,"Hypotension, Orthostatic",I00-I99,Diseases of the circulatory system
102,Multiple system atrophy,C0393571,Multiple System Atrophy,,
102,Multiple system atrophy,C0393911,Pure Autonomic Failure,,
102,Multiple system atrophy,C3714927,"MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO",,
1020,Early-onset autosomal dominant Alzheimer disease,C0276496,Familial Alzheimer Disease (FAD),,
1021,Amaurosis-hypertrichosis syndrome,C1857588,Amaurosis hypertrichosis,,
1023,"Congenital generalized hypertrichosis, Ambras type",C1840362,"HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)",,
1031,Enamel-renal syndrome,C2931783,Amelogenesis imperfecta nephrocalcinosis,,
1035,Beta-mercaptolactate cysteine disulfiduria,C0796055,Mercaptolactate-Cysteine Disulfiduria,,
1037,Arthrogryposis multiplex congenita,C0003886,Arthrogryposis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
103908,Congenital sodium diarrhea,C0267663,"Congenital secretory diarrhea, sodium type (disorder)",,
103909,Trehalase deficiency,C0268187,"alpha, alpha-Trehalase deficiency",,
103918,Tropical pancreatitis,C1842402,TROPICAL CALCIFIC PANCREATITIS,,
104,Leber hereditary optic neuropathy,C0917796,"Optic Atrophy, Hereditary, Leber",H00-H59,Diseases of the eye and adnexa
1040,Metaphyseal anadysplasia,C0432226,Metaphyseal anadysplasia,,
104008,Short bowel syndrome,C0036992,Short Bowel Syndrome,,
104075,Adenocarcinoma of the small instestine,C0278803,Adenocarcinoma of small intestine,,
1041,Hydrops fetalis,C0020305,Hydrops Fetalis,P00-P96,Certain conditions originating in the perinatal period
1047,Sideroblastic anemia,C0002896,Sideroblastic anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
1048,Isolated anencephaly/exencephaly,C0002902,Anencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
105,Atresia of urethra,C1610065,Urethral atresia,,
1052,Mosaic variegated aneuploidy syndrome,C1850343,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME,,
1052,Mosaic variegated aneuploidy syndrome,C2931286,Warburton Anyane Yeboa syndrome,,
1059,Blue rubber bleb nevus,C0346072,Blue rubber bleb nevus syndrome,,
1063,Tufted angioma,C0346073,Tufted angioma of skin,,
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,C0431401,Gillespie syndrome,,
107,BOR syndrome,C0265234,Branchio-Oto-Renal Syndrome,,
1070,Anisakiasis,C0162576,Anisakiasis,A00-B99,Certain infectious and parasitic diseases
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,C0406709,Hay-Wells syndrome,,
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,C1785148,RAPP-HODGKIN SYNDROME,,
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,C1302999,Ankyloblepharon filiforme adnatum,,
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,C1862866,Ankyloblepharon filiforme adnatum and cleft palate,,
1083,Microlissencephaly,C1956147,Microlissencephaly,,
109,Bannayan-Riley-Ruvalcaba syndrome,C0265326,Bannayan-Riley-Ruvalcaba Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
110,Bardet-Biedl syndrome,C0752166,Bardet-Biedl Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1106,Microphthalmia with limb anomalies,C0599973,Waardenburg Anophthalmia Syndrome,,
111,Barth syndrome,C0574083,3-Methylglutaconic aciduria type 2,E00-E90,"Endocrine, nutritional and metabolic diseases"
1114,Aplasia cutis congenita,C0282160,Aplasia Cutis Congenita,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1114,Aplasia cutis congenita,C2931779,Congenital defect of skull and scalp,,
112,Bartter syndrome,C0004775,Bartter Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
1125,"Ocular motor apraxia, Cogan type",C0543874,"Apraxia, oculomotor, Cogan type",,
1134,Isolated arrhinia,C0265740,Arrhinia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1135,Arrhinia-choanal atresia-microphthalmia syndrome,C1863878,"Arhinia, choanal atresia, and microphthalmia",,
1136,Arnold-Chiari malformation type II,C0003803,Arnold Chiari Malformation,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1136,Arnold-Chiari malformation type II,C0555206,Chiari malformation type II,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,C1862471,Arthrogryposis-like hand anomaly and sensorineural deafness,,
1145,Infantile-onset X-linked spinal muscular atrophy,C1844934,"Arthrogryposis multiplex congenita, distal, X-linked",,
1146,Digitotalar dysmorphism,C0220662,"ARTHROGRYPOSIS, DISTAL, TYPE 1",,
1146,Digitotalar dysmorphism,C1852085,Digitotalar Dysmorphism,,
1147,Sheldon-Hall syndrome,C1834523,"ARTHROGRYPOSIS, DISTAL, TYPE 2B",,
1149,Kuskokwim syndrome,C1859709,Kuskokwim disease,,
115,Congenital contractural arachnodactyly,C0220668,Congenital contractural arachnodactyly,,
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,C1834523,"ARTHROGRYPOSIS, DISTAL, TYPE 2B",,
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,C1862472,Oculomelic amyoplasia,,
1159,Progressive pseudorheumatoid arthropathy of childhood,C0432215,Progressive pseudorheumatoid dysplasia,,
116,Beckwith-Wiedemann syndrome,C0004903,Beckwith-Wiedemann Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1160,Chylous ascites,C0008732,Chylous Ascites,I00-I99,Diseases of the circulatory system
1163,Aspergillosis,C0004030,Aspergillosis,A00-B99,Certain infectious and parasitic diseases
1164,Allergic bronchopulmonary aspergillosis,C0004031,"Aspergillosis, Allergic Bronchopulmonary",A00-B99,Certain infectious and parasitic diseases
1166,Congenital unilateral hypoplasia of depressor anguli oris,C0431406,Asymmetric crying face association,,
1168,Ataxia-oculomotor apraxia type 1,C1859598,"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",,
117,Behçet disease,C0004943,Behcet Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
1170,Autosomal recessive cerebelloparenchymal disorder type 3,C1859298,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2",,
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,C1832466,CAPOS syndrome,,
1173,Cerebellar ataxia-hypogonadism syndrome,C1859305,Cerebellar Ataxia and Hypogonadotropic Hypogonadism,,
1177,Early-onset cerebellar ataxia with retained tendon reflexes,C0393520,Harding ataxia,G00-G99,Diseases of the nervous system
118,Beta-mannosidosis,C2931893,Lysosomal beta-mannosidase deficiency,,
118,Beta-mannosidosis,C4048196,beta-Mannosidosis,,
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,C1859093,"Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",,
1183,Opsoclonus-myoclonus syndrome,C0393626,Opsoclonus-Myoclonus Syndrome,,
1183,Opsoclonus-myoclonus syndrome,C1096154,Kinsbourne Syndrome,,
1183,Opsoclonus-myoclonus syndrome,C1721017,Paraneoplastic Opsoclonus-Myoclonus Ataxia,,
1186,Infantile onset spinocerebellar ataxia,C1849096,Infantile onset spinocerebellar ataxia,,
1187,Lethal ataxia with deafness and optic atrophy,C0796028,"ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",,
119,Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4,C1858593,"Limb-girdle muscular dystrophy, type 2E",,
119,Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4,C2930900,Beta-sarcoglycanopathy,,
1190,Atelosteogenesis type I,C0265283,"Atelosteogenesis, type 1",,
1193,Atkin-Flaitz syndrome,C0796206,Atkin syndrome,,
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,C3279699,"Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",,
1195,Congenital atransferrinemia,C0521802,Congenital atransferrinemia,,
1195,Congenital atransferrinemia,C3277918,TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1,,
1199,Esophageal atresia,C0014850,Esophageal Atresia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1199,Esophageal atresia,C1861028,Esophageal atresia with or without tracheoesophageal fistula,,
1200,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,C1837822,Burn-Mckeown syndrome,,
1201,Atresia of small intestine,C0021828,Intestinal Atresia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1201,Atresia of small intestine,C0266175,Jejunal Atresia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1202,Larynx atresia,C0265756,Congenital atresia of larynx,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1203,Duodenal atresia,C0266174,Duodenal atresia,,
1208,Pulmonary atresia-intact ventricular septum syndrome,C0344975,Pulmonary Atresia with Intact Ventricular Septum,,
1209,Tricuspid atresia,C0243002,Tricuspid Atresia,,
1214,Progressive hemifacial atrophy,C0015458,Facial Hemiatrophy,,
1215,Autosomal dominant optic atrophy plus syndrome,C1832466,CAPOS syndrome,,
122,Birt-Hogg-Dubé syndrome,C0346010,Multiple fibrofolliculomas,,
1225,Baller-Gerold syndrome,C0265308,Baller-Gerold syndrome,,
1226,Bamforth-Lazarus syndrome,C1855794,Bamforth syndrome,,
1229,Congenital intrauterine infection-like syndrome,C2931662,Baraitser Brett Piesowicz syndrome,,
1229,Congenital intrauterine infection-like syndrome,C3489725,Pseudo-TORCH syndrome,,
123,Björnstad syndrome,C0266006,Pili torti-deafness syndrome,,
1231,Barber-Say syndrome,C1319466,Barber Say syndrome,,
1234,Bartsocas-Papas syndrome,C1849718,"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE",,
124,Blackfan-Diamond anemia,C1260899,"Anemia, Diamond-Blackfan",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
124,Blackfan-Diamond anemia,C2676137,Diamond-Blackfan Anemia 1,,
124,Blackfan-Diamond anemia,C2931850,Aase Smith syndrome 2,,
1243,Best vitelliform macular dystrophy,C0339510,Vitelliform Macular Dystrophy,,
1243,Best vitelliform macular dystrophy,C2675055,"BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",,
1243,Best vitelliform macular dystrophy,C2745945,Juvenile-Onset Vitelliform Macular Dystrophy,,
1247,Schistosomiasis,C0036323,Schistosomiasis,A00-B99,Certain infectious and parasitic diseases
1248,Maxillonasal dysplasia,C0220692,"Maxillonasal dysplasia, Binder type",,
125,Bloom syndrome,C0005859,Bloom Syndrome,,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C0220663,"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C1862260,"BPES, TYPE I",,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C1862261,"BPES, TYPE II",,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C1862262,Bpes With Ovarian Failure,,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C1862263,Bpes Without Ovarian Failure,,
126,Blepharophimosis-epicanthus inversus-ptosis syndrome,C1862264,Bpes With Duane Retraction Syndrome,,
1263,Boomerang dysplasia,C0432201,Boomerang dysplasia,,
127,Borjeson-Forssman-Lehmann syndrome,C0265339,Borjeson-Forssman-Lehmann syndrome,,
1270,Bowen-Conradi syndrome,C1859405,Bowen-Conradi syndrome,,
1272,Aymé-Gripp syndrome,C1832812,"Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",,
1275,Brachydactyly-elbow wrist dysplasia syndrome,C1861313,"Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",,
1276,Brachydactyly-arterial hypertension syndrome,C1862170,Brachydactyly with hypertension,,
129,Pseudopelade of Brocq,C0086873,Pseudopelade,L00-L99,Diseases of the skin and subcutaneous tissue
1293,Brachyolmia,C0432228,Brachyolmia,,
1297,Branchio-oculo-facial syndrome,C0376524,Branchio-Oculo-Facial Syndrome,,
1299,Branchioskeletogenital syndrome,C0809936,Branchio-skeleto-genital syndrome,,
13,6-pyruvoyl-tetrahydropterin synthase deficiency,C0878676,6-pyruvoyl-tetrahydropterin synthase deficiency,,
130,Brugada syndrome,C0348626,Other specified cardiac arrhythmias,I00-I99,Diseases of the circulatory system
130,Brugada syndrome,C1142166,Brugada Syndrome (disorder),I00-I99,Diseases of the circulatory system
130,Brugada syndrome,C2748542,"CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",,
1300,Autosomal dominant popliteal pterygium syndrome,C0265259,Popliteal pterygium syndrome,,
1302,Cryptogenic organizing pneumonia,C0242770,Bronchiolitis Obliterans Organizing Pneumonia,J00-J99,Diseases of the respiratory system
1303,Bronchiolitis obliterans with obstructive pulmonary disease,C0006272,Bronchiolitis Obliterans,,
1303,Bronchiolitis obliterans with obstructive pulmonary disease,C2350875,Constrictive Bronchiolitis,,
1304,Brucellosis,C0006309,Brucellosis,A00-B99,Certain infectious and parasitic diseases
1305,Feingold syndrome,C0796068,Oculodigitoesophagoduodenal syndrome,,
1306,Buschke-Ollendorff syndrome,C0265514,Dermatofibrosis lenticularis disseminata,,
1306,Buschke-Ollendorff syndrome,C1833699,"Osteopoikilosis, Isolated",,
1306,Buschke-Ollendorff syndrome,C3149399,"DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",,
1306,Buschke-Ollendorff syndrome,C3149695,Melorheostosis with Osteopoikilosis,,
1307,Distal limb deficiencies-micrognathia syndrome,C1838652,SPLIT-HAND/FOOT MALFORMATION 3,,
1308,C syndrome,C0796095,Opitz trigonocephaly syndrome,,
131,Budd-Chiari syndrome,C0019154,Hepatic Vein Thrombosis,I00-I99,Diseases of the circulatory system
131,Budd-Chiari syndrome,C0856761,Budd-Chiari Syndrome,I00-I99,Diseases of the circulatory system
1310,Caffey disease,C0020497,Cortical Congenital Hyperostosis,M00-M99,Diseases of the musculoskeletal system and connective tissue
132,Butyrylcholinesterase deficiency,C0268379,Pseudocholinesterase deficiency,,
132,Butyrylcholinesterase deficiency,C1283400,Butyrylcholinesterase deficiency,,
132,Butyrylcholinesterase deficiency,C1622434,Suxamethonium sensitivity,,
132,Butyrylcholinesterase deficiency,C1867468,"Apnea, Postanesthetic",,
132,Butyrylcholinesterase deficiency,C1867469,"Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",,
1320,Idiopathic camptocormia,C0264162,Camptocormia,,
1328,Camurati-Engelmann disease,C0011989,Camurati-Engelmann Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1329,Complete atrioventricular canal,C0221215,Common atrioventricular canal,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1329,Complete atrioventricular canal,C0344787,Complete atrioventricular septal defect,,
133,Chronic beryllium disease,C0005138,Berylliosis,J00-J99,Diseases of the respiratory system
133,Chronic beryllium disease,C0221052,Chronic berylliosis,,
1330,Partial atrioventricular canal,C0344735,Partial atrioventricular canal,,
1331,Familial prostate cancer,C2931456,"Prostate cancer, familial",,
1332,Medullary thyroid carcinoma,C0238462,Medullary carcinoma of thyroid,,
1333,Familial pancreatic carcinoma,C2931038,"Pancreatic carcinoma, familial",,
1334,Chronic mucocutaneous candidiasis,C0006845,"Candidiasis, Chronic Mucocutaneous",,
1335,Pentalogy of Cantrell,C0559483,Pentalogy of Cantrell,,
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,C1857587,Orstavik Lindemann Solberg syndrome,,
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,C2931046,"Heart defect, tongue hamartoma and polysyndactyly",,
134,Beta-ketothiolase deficiency,C1536500,Deficiency of acetyl-CoA acetyltransferase,,
1340,Cardiofaciocutaneous syndrome,C1275081,Cardio-facio-cutaneous syndrome,,
1344,Atrial standstill,C0541782,Atrial standstill,,
1344,Atrial standstill,C1838539,"CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",,
135,CACH syndrome,C1847967,OVARIOLEUKODYSTROPHY,,
135,CACH syndrome,C1858991,Childhood Ataxia with Central Nervous System Hypomyelinization,,
1358,Carey-Fineman-Ziter syndrome,C1850746,"Myopathy, congenital nonprogressive with Moebius and Robin sequences",,
1359,Carney complex,C0406810,Carney Complex,,
1359,Carney complex,C2607929,"Carney Complex, Type 1",,
136,CADASIL,C0751587,CADASIL Syndrome,I00-I99,Diseases of the circulatory system
1361,Carnosinase deficiency,C0268632,Homocarnosinosis,,
1361,Carnosinase deficiency,C3495554,Homocarnosinase deficiency,,
1361,Carnosinase deficiency,C3495555,Carnosinemia,,
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,C1859317,Cataract and cardiomyopathy,,
137,Congenital disorder of glycosylation,C0282577,Congenital Disorders of Glycosylation,,
137577,Neonatal hypoxic and ischemic brain injury,C0752304,Hypoxic-Ischemic Encephalopathy,P00-P96,Certain conditions originating in the perinatal period
137583,Vulvar intraepithelial neoplasia,C0346210,Vulval intraepithelial neoplasia,N00-N99,Diseases of the genitourinary system
137599,Herpes simplex virus stromal keratitis,C1318020,Stromal keratitis,,
137605,Legius syndrome,C1969623,"NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME",,
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,C1969054,"Glycogen Storage Disease 0, Muscle",,
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,C3280095,"MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME",,
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,C2676243,"Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",,
137667,Capillary malformation-arteriovenous malformation,C1842180,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder),,
137675,Histiocytoid cardiomyopathy,C1708371,Histiocytoid Cardiomyopathy,,
137678,"Czech dysplasia, metatarsal type",C1836683,"Czech dysplasia, metatarsal type",,
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,C1836797,Combined Oxidative Phosphorylation Deficiency 1,,
137686,Asherman syndrome,C0156372,Asherman Syndrome,,
137686,Asherman syndrome,C1704274,Intrauterine adhesions,N00-N99,Diseases of the genitourinary system
1377,Cataract-microcornea syndrome,C1861829,Cataract microcornea syndrome,,
137754,Neurological conditions associated with aminoacylase 1 deficiency,C1835922,Aminoacylase 1 deficiency,,
137776,Lethal congenital contracture syndrome type 2,C1843478,Lethal Congenital Contracture Syndrome 2,,
137783,Lethal congenital contracture syndrome type 3,C1969655,LETHAL CONGENITAL CONTRACTURAL SYNDROME 3,,
137807,Primary cutaneous amyloidosis,C0268397,"Amyloidosis, Primary Cutaneous",,
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,C1845366,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance",,
137834,Frank-Ter Haar syndrome,C1855305,Ter Haar syndrome,,
137834,Frank-Ter Haar syndrome,C1859406,Borrone Di Rocco Crovato syndrome,,
137839,Lemierre syndrome,C0343525,Lemierre Syndrome,,
137888,Auriculocondylar syndrome,C1865295,Auriculo-condylar syndrome,,
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,C1970180,Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation,,
137908,Hypotonia with lactic acidemia and hyperammonemia,C2673642,Combined Oxidative Phosphorylation Deficiency 5,,
137914,Choanal atresia,C0008297,Choanal Atresia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
137914,Choanal atresia,C0220723,"CHOANAL ATRESIA, POSTERIOR",,
138,CHARGE syndrome,C0265354,CHARGE Syndrome,,
138044,Rare disease with Pierre Robin syndrome,C0031900,Pierre Robin Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1387,Cataract-intellectual disability-hypogonadism syndrome,C0796037,Martsolf syndrome,,
1388,Catel-Manzke syndrome,C1844887,Catel Manzke syndrome,,
139,CHILD syndrome,C0265267,Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects,,
1393,Cerebrocostomandibular syndrome,C0265342,Cerebrocostomandibular Syndrome,,
1394,Cerebrofaciothoracic dysplasia,C1859252,Cerebrofaciothoracic Dysplasia,,
139402,Drug rash with eosinophilia and systemic symptoms,C3541994,Drug Hypersensitivity Syndrome,,
139406,Encephalopathy due to prosaposin deficiency,C2673635,Combined Saposin Deficiency,,
139411,Carney triad,C1858592,Carney Triad,,
139455,Autosomal recessive bestrophinopathy,C3888198,"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",,
139466,SERKAL syndrome,C2678492,"Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",,
139471,Microphthalmia with brain and digit anomalies,C1864689,"MICROPHTHALMIA, SYNDROMIC 6 (disorder)",,
139474,17q11.2 microduplication syndrome,C3150928,NF1 Microdeletion Syndrome,,
139480,Autosomal recessive spastic paraplegia type 39,C2677586,"Spastic Paraplegia 39, Autosomal Recessive",,
139485,Autosomal recessive ataxia due to ubiquinone deficiency,C2677589,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",,
139491,Hemochromatosis type 4,C1853733,"HEMOCHROMATOSIS, TYPE 4",,
139512,Neuropathy with hearing impairment,C4509933,Peripheral neuropathy with sensorineural hearing impairment syndrome,,
139515,Charcot-Marie-Tooth disease type 4J,C1970011,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",,
139525,Distal hereditary motor neuropathy type 2,C1854023,"Spinal muscular atrophy, Jerash type",,
139525,Distal hereditary motor neuropathy type 2,C3711384,"Distal Hereditary Motor Neuropathy, Type II",,
139552,"Distal hereditary motor neuropathy, Jerash type",C1854023,"Spinal muscular atrophy, Jerash type",,
139557,X-linked distal spinal muscular atrophy type 3,C1845359,"Spinal Muscular Atrophy, Distal, X-Linked 3",,
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,C1850395,"Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",,
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,C1845095,"DEAFNESS, X-LINKED 5 (disorder)",,
1398,Isolated cerebellar agenesis,C0266470,Cerebellar Hypoplasia,,
14,Abetalipoproteinemia,C0000744,Abetalipoproteinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
140,Campomelic dysplasia,C1842462,CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL,,
140,Campomelic dysplasia,C1861922,CAMPOMELIC DYSPLASIA,,
140,Campomelic dysplasia,C1861923,Acampomelic Campomelic Dysplasia,,
1401,CHAND syndrome,C0406733,Curly hair-ankyloblepharon-nail dysplasia syndrome,,
140481,Autosomal dominant slowed nerve conduction velocity,C1842357,"Slowed Nerve Conduction Velocity, Autosomal Dominant",,
140896,Acute respiratory coronavirus infection,C1175175,Severe Acute Respiratory Syndrome,J00-J99,Diseases of the respiratory system
140917,Stapes ankylosis with broad thumbs and toes,C1866656,STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder),,
140922,Titin-related  limb-girdle muscular dystrophy R10,C1837342,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",,
140927,Benign familial neonatal-infantile seizures,C0220669,Familial benign neonatal epilepsy,,
140941,Short stature due to primary acid-labile subunit deficiency,C3900122,Acid-Labile Subunit Deficiency,,
140944,CLOVES syndrome,C2752042,"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",,
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,C2678045,"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS",,
140957,Autosomal dominant macrothrombocytopenia,C4304021,Autosomal dominant macrothrombocytopenia,,
140963,Bilateral microtia-deafness-cleft palate syndrome,C2676772,"Microtia, Hearing Impairment, And Cleft Palate",,
140963,Bilateral microtia-deafness-cleft palate syndrome,C3808166,MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT,,
140966,"Palmoplantar keratoderma, Nagashima type",C3810072,Palmoplantar keratoderma Nagashima type,,
140969,Saldino-Mainzer syndrome,C1849437,Mainzer-Saldino Disease,,
140976,RHYNS syndrome,C1865794,RHYNS syndrome,,
140989,Primary angiitis of the central nervous system,C0751878,"Vasculitis, Central Nervous System",,
141,Canavan disease,C0206307,Canavan Disease,,
141,Canavan disease,C3542499,Aminoacylase 2 Deficiency,,
1410,Uncombable hair syndrome,C0432347,Uncombable hair syndrome,,
141083,Nasolacrimal duct cyst,C0155241,Lacrimal mucocele,,
141145,Hemifacial hyperplasia,C1306710,Facial asymmetry,,
141179,Non-involuting congenital hemangioma,C1275417,Non-involuting congenital hemangioma,,
141184,Rapidly involuting congenital hemangioma,C1275421,Rapidly involuting congenital hemangioma,,
1412,Tarsal-carpal coalition syndrome,C1861305,TARSAL-CARPAL COALITION SYNDROME,,
141258,Tessier number 4 facial cleft,C1838348,Oculomaxillofacial dysostosis,,
141291,Cleft lip and alveolus,C1298692,Cleft lip and alveolus,,
1414,Cholestasis-lymphedema syndrome,C0268314,"Cholestasis-edema syndrome, Norwegian type",,
1416,Familial calcium pyrophosphate deposition,C0409896,Familial chondrocalcinosis,M00-M99,Diseases of the musculoskeletal system and connective tissue
1416,Familial calcium pyrophosphate deposition,C0553730,Calcium pyrophosphate deposition disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
1416,Familial calcium pyrophosphate deposition,C0856830,Calcium pyrophosphate arthropathy,,
142,Anaplastic thyroid carcinoma,C0238461,Anaplastic thyroid carcinoma,,
1422,Chondrodysplasia-disorder of sex development syndrome,C1838654,Nivelon Nivelon Mabille syndrome,,
1425,Desbuquois syndrome,C0432242,Desbuquois syndrome,,
1425,Desbuquois syndrome,C4012146,DESBUQUOIS DYSPLASIA 1,,
1426,Greenberg dysplasia,C2931048,HEM dysplasia,,
1427,Otospondylomegaepiphyseal dysplasia,C4520892,Otospondylomegaepiphyseal dysplasia,,
143,Parathyroid carcinoma,C0687150,Parathyroid Gland Adenocarcinoma,,
1431,Paroxysmal dyskinesia,C0008489,Chorea,G00-G99,Diseases of the nervous system
1431,Paroxysmal dyskinesia,C0752210,"Dyskinesias, Paroxysmal",,
144,Lynch syndrome,C0009405,Hereditary Nonpolyposis Colorectal Neoplasms,,
144,Lynch syndrome,C1112155,Hereditary non-polyposis colorectal cancer syndrome,,
144,Lynch syndrome,C1333990,Hereditary Nonpolyposis Colorectal Cancer,,
144,Lynch syndrome,C1333991,Hereditary Non-Polyposis Colon Cancer Type 2,,
144,Lynch syndrome,C2936783,"Colorectal cancer, hereditary nonpolyposis, type 1",,
145,Hereditary breast and ovarian cancer syndrome,C0677776,Hereditary Breast and Ovarian Cancer Syndrome,,
1451,CINCA syndrome,C0409818,"Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",M00-M99,Diseases of the musculoskeletal system and connective tissue
1452,Cleidocranial dysplasia,C0008928,Cleidocranial Dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1452,Cleidocranial dysplasia,C1838416,"CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",,
1452,Cleidocranial dysplasia,C1861516,"Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",,
1454,Joubert syndrome with hepatic defect,C1857662,COACH syndrome,,
1457,Aorta coarctation,C0003492,Aortic coarctation,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1458,CODAS syndrome,C1838180,CODAS syndrome,,
146,Differentiated thyroid carcinoma,C0238463,Papillary thyroid carcinoma,,
1461,Criss-cross heart,C0010334,Crisscross Heart,,
1464,Univentricular heart,C0152424,Common ventricle,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1465,Coffin-Siris syndrome,C0265338,Coffin-Siris syndrome,,
1466,COFS syndrome,C0220722,Cerebrooculofacioskeletal Syndrome 1,,
1466,COFS syndrome,C1859312,CAMFAK syndrome,,
1466,COFS syndrome,C2931277,Pena Shokeir syndrome Type 2,,
1467,Cogan syndrome,C0271270,Oculovestibuloauditory syndrome,H00-H59,Diseases of the eye and adnexa
147,Carbamoyl-phosphate synthetase 1 deficiency,C0751753,Carbamoyl-Phosphate Synthase I Deficiency Disease,,
147,Carbamoyl-phosphate synthetase 1 deficiency,C4082171,Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency,,
1473,Uveal coloboma-cleft lip and palate-intellectual disability,C0795902,"Coloboma, cleft lip-palate and mental retardation syndrome",,
1473,Uveal coloboma-cleft lip and palate-intellectual disability,C3805432,"COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",,
1475,Renal coloboma syndrome,C1852759,Papillorenal syndrome,,
1478,Interatrial communication,C0018817,Atrial Septal Defects,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1478,Interatrial communication,C0344735,Partial atrioventricular canal,,
1478,Interatrial communication,C1862389,ATRIAL SEPTAL DEFECT 1,,
1478,Interatrial communication,C1862391,ASD I,,
1478,Interatrial communication,C1862392,"Atrial Septal Defect, Secundum Type",,
1478,Interatrial communication,C1862393,ASD II,,
1479,Atrial septal defect-atrioventricular conduction defects syndrome,C3276096,ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS,,
1479,Atrial septal defect-atrioventricular conduction defects syndrome,C3502353,Atrial Septal Defect with Atrioventricular Conduction Defects,,
148,Multiple carboxylase deficiency,C0026755,Multiple Carboxylase Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
1486,Lethal congenital contracture syndrome type 1,C1854664,LETHAL CONGENITAL CONTRACTURE SYNDROME 1,,
1489,Whooping cough,C0043167,Pertussis,A00-B99,Certain infectious and parasitic diseases
1489,Whooping cough,C0043168,Whooping cough due to unspecified organism,A00-B99,Certain infectious and parasitic diseases
1490,Corneal dystrophy-perceptive deafness syndrome,C1857572,CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS,,
1493,Vici syndrome,C1855772,Absent corpus callosum cataract immunodeficiency,,
1496,Corpus callosum agenesis-neuronopathy syndrome,C0795950,Corpus callosum agenesis neuronopathy,,
1497,X-linked complicated corpus callosum dysgenesis,C1839909,"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",,
15,Achondroplasia,C0001080,Achondroplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
150,Nasopharyngeal carcinoma,C0153392,Malignant neoplasm of nasopharynx,C00-D48,Neoplasms
150,Nasopharyngeal carcinoma,C0238301,Cancer of Nasopharynx,,
150,Nasopharyngeal carcinoma,C2931822,Nasopharyngeal carcinoma,,
1501,Adrenocortical carcinoma,C0206686,Adrenocortical carcinoma,,
1501,Adrenocortical carcinoma,C0346402,Malignant neoplasm of adrenal cortex,C00-D48,Neoplasms
1505,Short rib-polydactyly syndrome,C0036996,Short Rib-Polydactyly Syndrome,,
1507,Autosomal recessive Robinow syndrome,C1849334,"Robinow syndrome, autosomal recessive",,
1507,Autosomal recessive Robinow syndrome,C3151609,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",,
1507,Autosomal recessive Robinow syndrome,C3151610,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",,
1509,Coxopodopatellar syndrome,C1840061,SMALL PATELLA SYNDROME,,
1509,Coxopodopatellar syndrome,C1868581,"Patella aplasia, coxa vara, tarsal synostosis",,
1513,Craniodiaphyseal dysplasia,C0410539,Craniodiaphyseal dysplasia,,
1513,Craniodiaphyseal dysplasia,C2675746,"CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",,
1515,Cranioectodermal dysplasia,C0432235,Cranioectodermal Dysplasia,,
1517,"Hypertrichotic osteochondrodysplasia, Cantu type",C0795905,Cantu syndrome,,
1519,"Hypertelorism, Teebi type",C0796179,Teebi syndrome,,
1520,Craniofrontonasal dysplasia,C0220767,Craniofrontonasal dysplasia,,
1525,Cranio-osteoarthropathy,C1531773,Currarino triad,,
1525,Cranio-osteoarthropathy,C2678439,CRANIOOSTEOARTHROPATHY,,
1525,Cranio-osteoarthropathy,C2930922,Reginato Schiapachasse syndrome,,
1527,"Craniosynostosis, Philadelphia type",C1832590,"Craniosynostosis, Philadelphia Type",,
1529,Craniofacial-deafness-hand syndrome,C1852510,Craniofacial deafness hand syndrome,,
1531,Craniosynostosis,C0010278,Craniosynostosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
154,Familial isolated dilated cardiomyopathy,C0340427,Familial dilated cardiomyopathy,,
1540,Jackson-Weiss syndrome,C0795998,JACKSON-WEISS SYNDROME,,
1541,"Craniosynostosis, Boston type",C1858160,"CRANIOSYNOSTOSIS, TYPE 2",,
1545,Crisponi syndrome,C1832409,Crisponi syndrome,,
1546,Cryptococcosis,C0010414,Infection by Cryptococcus neoformans,A00-B99,Certain infectious and parasitic diseases
1549,Cryptosporidiosis,C0010418,Cryptosporidiosis,A00-B99,Certain infectious and parasitic diseases
1552,Currarino syndrome,C1531773,Currarino triad,,
1552,Currarino syndrome,C1867774,Sacral Agenesis Syndrome,,
1553,Curry-Jones syndrome,C0795915,Winter Shortland Temple syndrome,,
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,C1852406,Cutis Gyrata Syndrome of Beare And Stevenson,,
1556,Cutis marmorata telangiectatica congenita,C0345419,Cutis marmorata telangiectatica congenita,,
156,Carnitine palmitoyl transferase 1A deficiency,C1829703,Carnitine palmitoyl transferase 1A deficiency,,
1560,Cysticercosis,C0010678,Cysticercosis,A00-B99,Certain infectious and parasitic diseases
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,C2717865,Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis,,
1563,Dahlberg-Borer-Newcomer syndrome,C0869083,"Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",C1837481,"Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",,
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,C0796254,"DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",,
157,Carnitine palmitoyltransferase II deficiency,C0342790,Carnitine palmitoyl transferase 2 deficiency,,
1571,Knobloch syndrome,C1849409,Knobloch syndrome,,
1572,Common variable immunodeficiency,C0009447,Common Variable Immunodeficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
1572,Common variable immunodeficiency,C3149378,"IMMUNODEFICIENCY, COMMON VARIABLE, 1",,
157215,Hereditary hypophosphatemic rickets with hypercalciuria,C1853271,"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY",,
1573,Hypotrichosis with juvenile macular degeneration,C1832162,"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",,
1576,Infantile bilateral striatal necrosis,C0795996,"STRIATONIGRAL DEGENERATION, INFANTILE (disorder)",,
157791,Epithelioid hemangioendothelioma,C0206732,Epithelioid hemangioendothelioma,,
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,C1849700,Hyperphenylalaninemia with primapterinuria,,
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,C1836206,"Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",,
157820,Cold-induced sweating syndrome,C1832409,Crisponi syndrome,,
157820,Cold-induced sweating syndrome,C1848947,COLD-INDUCED SWEATING SYNDROME 1,,
157835,Paroxysmal hemicrania,C0302356,"incomplete anencephaly, hemicrania",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
157846,Neuroferritinopathy,C1853578,Neuroferritinopathy,,
157850,Pantothenate kinase-associated neurodegeneration,C0018523,Hallervorden-Spatz Syndrome,G00-G99,Diseases of the nervous system
157954,ANE syndrome,C2677535,"Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",,
157962,"Oculoauricular syndrome, Schorderet type",C2677500,Oculoauricular Syndrome,,
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,C2676510,"Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",,
157973,Congenital muscular dystrophy due to LMNA mutation,C2750785,"MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",,
158,Systemic primary carnitine deficiency,C0342788,Renal carnitine transport defect,E00-E90,"Endocrine, nutritional and metabolic diseases"
158000,Juvenile xanthogranuloma,C0043324,Juvenile Xanthogranuloma,,
158014,Rosaï-Dorfman disease,C0019625,Sinus histiocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
158029,Sea-blue histiocytosis,C0036489,Sea-Blue Histiocyte Syndrome,,
158032,Hemophagocytic syndrome,C0024291,"Lymphohistiocytosis, Hemophagocytic",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
158032,Hemophagocytic syndrome,C3887558,Hemophagocytic Syndrome,,
158061,Macrophage activation syndrome,C1096155,Macrophage Activation Syndrome,,
158668,Epidermolysis bullosa simplex due to plakophilin deficiency,C1858302,Ectodermal dysplasia/ skin fragility syndrome,,
158673,Acral dystrophic epidermolysis bullosa,C4518087,Acral dystrophic epidermolysis bullosa,,
158681,Epidermolysis bullosa simplex with circinate migratory erythema,C1836284,Epidermolysis Bullosa Simplex with Migratory Circinate Erythema,,
158684,Epidermolysis bullosa simplex with pyloric atresia,C2677349,Epidermolysis Bullosa Simplex With Pyloric Atresia,,
158687,Lethal acantholytic epidermolysis bullosa,C1864826,"Epidermolysis bullosa, lethal acantholytic",,
159,Carnitine-acylcarnitine translocase deficiency,C0342791,Carnitine-Acylcarnitine Translocase Deficiency,,
1596,Distal monosomy 15q,C2675463,Chromosome 15q26-Qter Deletion Syndrome,,
1598,Monosomy 18p,C0432442,Chromosome 18p deletion syndrome,,
16,Blue cone monochromatism,C0339537,Cone monochromatism,,
16,Blue cone monochromatism,C2931753,"Achromatopsia incomplete, X-linked",,
16,Blue cone monochromatism,C3887937,"CONE DYSTROPHY 5, X-LINKED",,
160,Castleman disease,C0017531,Angiolymphoid hyperplasia,C00-D48,Neoplasms
1600,Monosomy 18q,C0432443,Deletion of long arm of chromosome 18,,
1606,1p36 deletion syndrome,C1842870,Chromosome 1p36 Deletion Syndrome,,
1617,2q24 microdeletion syndrome,C2931816,"Chromosome 2, monosomy 2q24",,
1627,Deletion 5q35,C2931574,"Chromosome 5, monosomy 5q35",,
163,Hereditary hyperferritinemia-cataract syndrome,C1833213,"Hyperferritinemia, hereditary, with congenital cataracts",,
163525,Subacute cutaneous lupus erythematosus,C0024140,"Lupus Erythematosus, Subacute Cutaneous",L00-L99,Diseases of the skin and subcutaneous tissue
163634,Maffucci syndrome,C0024454,Maffucci Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
163681,Cortical dysplasia-focal epilepsy syndrome,C2750246,Pitt-Hopkins-Like Syndrome 1,,
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,C3150990,LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY,,
163690,Hypotonia-cystinuria syndrome,C1848030,Hypotonia-Cystinuria Syndrome,,
163693,2p21 microdeletion syndrome,C4304537,2p21 microdeletion syndrome,,
163696,Action myoclonus-renal failure syndrome,C0751779,Action Myoclonus-Renal Failure Syndrome,,
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,C1836727,"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",,
163937,"X-linked intellectual disability, Najm type",C2677903,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,,
163956,"X-linked intellectual disability, Nascimento type",C3275464,"MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE",,
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",C3275476,"CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA",,
163985,Hyperekplexia-epilepsy syndrome,C1845102,Hyperekplexia and Epilepsy,,
1646,Partial chromosome Y deletion,C1507149,Partial chromosome Y deletion,,
1646,Partial chromosome Y deletion,C2931163,Male sterility due to Y-chromosome deletions,,
165,Neutral lipid storage disease,C0268238,Triglyceride storage disease with ichthyosis,,
1652,Dent disease,C0878681,Dent\'s disease,,
1652,Dent disease,C1839874,Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis,,
1653,Dentin dysplasia,C0011430,Dentin Dysplasia,K00-K93,Diseases of the digestive system
1656,Dermatitis herpetiformis,C0011608,Dermatitis Herpetiformis,L00-L99,Diseases of the skin and subcutaneous tissue
1658,Absence of fingerprints-congenital milia syndrome,C0406707,Basan syndrome,,
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,C0007959,Charcot-Marie-Tooth Disease,G00-G99,Diseases of the nervous system
166011,"Multiple epiphyseal dysplasia, Beighton type",C1851536,"Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",,
166024,"Multiple epiphyseal dysplasia, Al-Gazali type",C1846722,Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies,,
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,C1855188,Metaphyseal Chondrodysplasia with Retinitis Pigmentosa,,
166063,Pontocerebellar hypoplasia type 4,C1856974,PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder),,
166068,Pontocerebellar hypoplasia type 5,C1857762,"Olivopontocerebellar hypoplasia, fetal-onset",,
166073,Pontocerebellar hypoplasia type 6,C1969084,Pontocerebellar Hypoplasia Type 6,,
166078,Von Willebrand disease type 1,C1264039,"von Willebrand Disease, Type 1",,
166081,Von Willebrand disease type 2,C1264040,"von Willebrand Disease, Type 2",,
166081,Von Willebrand disease type 2,C1282968,"von Willebrand Disease, Type 2A",,
166081,Von Willebrand disease type 2,C1282971,"von Willebrand Disease, Type 2B",,
166081,Von Willebrand disease type 2,C1282974,von Willebrand disease type 2M,,
166081,Von Willebrand disease type 2,C1282975,"von Willebrand Disease, Type 2N",,
166084,Von Willebrand disease type 2A,C1282968,"von Willebrand Disease, Type 2A",,
166087,Von Willebrand disease type 2B,C1282971,"von Willebrand Disease, Type 2B",,
166090,Von Willebrand disease type 2M,C1282974,von Willebrand disease type 2M,,
166093,Von Willebrand disease type 2N,C1282975,"von Willebrand Disease, Type 2N",,
166096,Von Willebrand disease type 3,C1264041,"von Willebrand Disease, Type 3",,
166108,"Intellectual disability, Birk-Barel type",C2676770,Birk-Barel Mental Retardation Dysmorphism Syndrome,,
1662,Restrictive dermopathy,C0406585,Lethal tight skin contracture syndrome (disorder),,
166260,Dentinogenesis imperfecta type 2,C2973527,Dentinogenesis imperfecta without osteogenesis imperfecta,,
166265,Dentinogenesis imperfecta type 3,C0399378,Dentinogenesis imperfecta - Shield\'s type III (disorder),,
166272,Odontochondrodysplasia,C0018036,"Hypertension, Goldblatt",,
166282,Familial sick sinus syndrome,C0037052,Sick Sinus Syndrome,I00-I99,Diseases of the circulatory system
166282,Familial sick sinus syndrome,C1837845,"SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",,
166286,Porokeratotic eccrine ostial and dermal duct nevus,C0473579,Porokeratotic eccrine ostial and dermal duct nevus,,
1667,Wolcott-Rallison syndrome,C0432217,Wolcott-Rallison syndrome,,
167,Chédiak-Higashi syndrome,C0007965,Chediak-Higashi Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
167,Chédiak-Higashi syndrome,C0007965,Chediak-Higashi Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
1671,Diastematomyelia,C0011999,Diastematomyelia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1675,Dihydropyrimidine dehydrogenase deficiency,C0274576,Poisoning by fluorouracil,,
1675,Dihydropyrimidine dehydrogenase deficiency,C1959620,Dihydropyrimidine Dehydrogenase Deficiency,,
1679,Diphtheria,C0012546,Diphtheria,A00-B99,Certain infectious and parasitic diseases
168,Loose anagen syndrome,C0406468,Loose Anagen Hair Syndrome,,
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",C1864872,"Spondyloepimetaphyseal dysplasia, Genevieve type",,
168486,Congenital neuronal ceroid lipofuscinosis,C0027877,Neuronal Ceroid-Lipofuscinoses,E00-E90,"Endocrine, nutritional and metabolic diseases"
168486,Congenital neuronal ceroid lipofuscinosis,C1864670,"Neuronal Ceroid Lipofuscinosis, Congenital",,
168491,Late infantile neuronal ceroid lipofuscinosis,C0022340,Late-Infantile Neuronal Ceroid Lipfuscinosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
1685,Distomatosis,C0040820,Trematode Infections,A00-B99,Certain infectious and parasitic diseases
168549,Axial spondylometaphyseal dysplasia,C1865695,"Spondylometaphyseal dysplasia, axial",,
168558,"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",C3151055,"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",,
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",C2751325,"46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy",,
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,C1864840,Combined Oxidative Phosphorylation Deficiency 3,,
168569,H syndrome,C1864445,Histiocytosis with joint contractures and sensorineural deafness,,
168572,Native American myopathy,C1850625,Native American myopathy,,
168577,Hereditary cryohydrocytosis with reduced stomatin,C1837206,"Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",,
168583,Hereditary North American Indian childhood cirrhosis,C1858051,NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS,,
168588,Hyperandrogenism due to cortisone reductase deficiency,C1291245,Cortisone reductase deficiency,,
168593,Sudden infant death-dysgenesis of the testes syndrome,C1837371,Sudden Infant Death with Dysgenesis of the Testes Syndrome,,
168598,Brain demyelination due to methionine adenosyltransferase deficiency,C0268621,Hepatic methionine adenosyltransferase deficiency,,
168606,Seborrhea-like dermatitis with psoriasiform elements,C1853258,Seborrhea-Like Dermatitis with Psoriasiform Elements,,
168612,Congenital deficiency in alpha-fetoprotein,C1863081,alpha-Fetoprotein Deficiency,,
168615,Hereditary persistence of alpha-fetoprotein,C1863080,"ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF",,
168624,"Familial scaphocephaly syndrome, McGillivray type",C1865070,"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",,
168782,Childhood disintegrative disorder,C0236791,Childhood disintegrative disorder,F00-F99,Mental and behavioural disorders
168796,"Heart-hand syndrome, Slovenian type",C1857829,"Heart-hand syndrome, Slovenian type",,
168811,Malignant peritoneal mesothelioma,C0346109,Malignant Mesothelioma of Peritoneum,C00-D48,Neoplasms
168816,Peritoneal cystic mesothelioma,C0206680,"Mesothelioma, Cystic",,
168829,Primary peritoneal carcinoma,C1514428,Primary peritoneal carcinoma,,
168956,Hypereosinophilic syndrome,C1540912,Hypereosinophilic syndrome,,
168960,Refractory anemia with excess blasts in transformation,C0002894,Refractory anaemia with excess blasts,C00-D48,Neoplasms
168960,Refractory anemia with excess blasts in transformation,C0280028,Refractory anemia with excess blasts in transformation (clinical),C00-D48,Neoplasms
168966,Composite lymphoma,C0545080,Composite Lymphoma,,
169,Ringed hair disease,C0263489,Pili annulati,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
169079,Cernunnos-XLF deficiency,C1969799,"Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation",,
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,C1837065,"CD8 Deficiency, Familial",,
169095,Severe combined immunodeficiency due to FOXN1 deficiency,C1866426,"T-cell immunodeficiency, congenital alopecia and nail dystrophy",,
169100,Immunodeficiency due to CD25 deficiency,C1853392,"Interleukin 2 Receptor, Alpha, Deficiency of",,
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,C1837028,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",,
169186,Autosomal recessive centronuclear myopathy,C0410204,"Myopathy, Centronuclear, Autosomal Recessive",,
169186,Autosomal recessive centronuclear myopathy,C3645536,Autosomal Recessive Centronuclear Myopathy,,
169189,Autosomal dominant centronuclear myopathy,C1834558,"Myopathy, Centronuclear, Autosomal Dominant",,
169464,Primary CD59 deficiency,C2676767,CD59 Deficiency,,
169615,Idiopathic central precocious puberty,C0342544,Idiopathic central precocious puberty,,
169802,Severe hemophilia A,C0272322,Severe hereditary factor VIII deficiency disease,,
1699,Trisomy 12p,C0795845,"Chromosome 12, 12p trisomy",,
17,Fatal infantile lactic acidosis with methylmalonic aciduria,C3151476,MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA),,
170,Woolly hair,C0343073,Wooly hair,,
170,Woolly hair,C0345427,"Woolly hair, congenital",,
170,Woolly hair,C1860238,"WOOLLY HAIR, AUTOSOMAL DOMINANT",,
171,Primary sclerosing cholangitis,C0566602,Primary sclerosing cholangitis,K00-K93,Diseases of the digestive system
1711,Mosaic trisomy 17,C1096168,Chromosome 17 trisomy,,
171439,Childhood-onset nemaline myopathy,C0546125,"Nemaline Myopathy, Childhood Onset",,
171607,X-linked spastic paraplegia type 34,C2677897,"SPASTIC PARAPLEGIA 34, X-LINKED (disorder)",,
171612,Autosomal dominant spastic paraplegia type 37,C2936880,"SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)",,
171617,Autosomal dominant spastic paraplegia type 38,C2676732,"SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)",,
171622,Autosomal recessive spastic paraplegia type 32,C1970009,"SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE",,
171629,Autosomal recessive spastic paraplegia type 35,C3496228,"Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",,
171673,Limbal stem cell deficiency,C1561989,Limbal stem cell deficiency,,
171676,Periventricular leukomalacia,C0023529,"Leukomalacia, Periventricular",P00-P96,Certain conditions originating in the perinatal period
171680,Lissencephaly due to TUBA1A mutation,C1969029,Lissencephaly 3,,
171700,Diffuse panbronchiolitis,C0878555,Diffuse panbronchiolitis,,
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,C1864761,"Thyroid Hormone Metabolism, Abnormal",,
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,C2675204,"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract",,
171851,MEDNIK syndrome,C1836330,ERYTHROKERATODERMIA VARIABILIS 3 (disorder),,
171863,Autosomal dominant spastic paraplegia type 42,C2675528,"Spastic Paraplegia 42, Autosomal Dominant",,
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",C2748544,"Spondyloepimetaphyseal Dysplasia, Aggrecan Type",,
171871,Renal pseudohypoaldosteronism type 1,C1449842,"Pseudohypoaldosteronism, Type I, Autosomal Dominant",,
171876,Generalized pseudohypoaldosteronism type 1,C1449843,"Pseudohypoaldosteronism, Type I, Autosomal Recessive",,
171881,Cap myopathy,C3710589,Cap Myopathy,,
171901,Primary cutaneous T-cell lymphoma,C0079773,"Lymphoma, T-Cell, Cutaneous",,
171918,T-cell non-Hodgkin lymphoma,C0079772,T-Cell Lymphoma,,
172,Progressive familial intrahepatic cholestasis,C0268312,Progressive intrahepatic cholestasis (disorder),,
1727,22q11.2 microduplication syndrome,C2675369,Chromosome 22q11.2 Microduplication Syndrome,,
173,Cholera,C0008354,Cholera,A00-B99,Certain infectious and parasitic diseases
174,"Metaphyseal chondrodysplasia, Schmid type",C0265289,Metaphyseal chondrodysplasia Schmid type,,
175,Cartilage-hair hypoplasia,C0220748,Cartilage-hair hypoplasia,,
1756,Caudal duplication,C1842884,Caudal Duplication Anomaly,,
1762,Trisomy Xq28,C1846058,Lubs X-linked mental retardation syndrome,,
1762,Trisomy Xq28,C3714043,Trisomy Xq28,,
1764,Familial dysautonomia,C0013364,"Dysautonomia, Familial",G00-G99,Diseases of the nervous system
1766,Dysequilibrium syndrome,C0394006,Dysequilibrium syndrome,,
177,Rhizomelic chondrodysplasia punctata,C0282529,"Chondrodysplasia Punctata, Rhizomelic",E00-E90,"Endocrine, nutritional and metabolic diseases"
1772,"45,X/46,XY mixed gonadal dysgenesis",C0018055,"Gonadal Dysgenesis, Mixed",,
1775,Dyskeratosis congenita,C0265965,Dyskeratosis Congenita,,
1777,Temtamy syndrome,C1857512,Temtamy syndrome,,
178,Chordoma,C0008487,Chordoma,,
1780,Thakker-Donnai syndrome,C1856892,Facial Dysmorphism with Multiple Malformations,,
178029,Central diabetes insipidus,C0687720,Central Diabetes Insipidus,,
1782,Dysosteosclerosis,C0432262,Dysosteosclerosis,,
178307,Reticulate acropigmentation of Kitamura,C0406811,Reticulate acropigmentation of Kitamura,,
178320,Acute lung injury,C0242488,Acute Lung Injury,,
178333,Åland Islands eye disease,C0268505,"Ocular albinism, type II",,
178338,UV-sensitive syndrome,C1833561,UV-Sensitive Syndrome,,
178345,Aromatase excess syndrome,C1970109,AROMATASE EXCESS SYNDROME,,
178355,Smith-McCort dysplasia,C1846431,SMITH-MCCORT DYSPLASIA,,
178364,Syndromic microphthalmia type 5,C1864690,"Microphthalmia, Syndromic 5",,
178382,Congenital vertical talus,C0240912,Vertical Talus,,
178389,Osteopetrosis-hypogammaglobulinemia syndrome,C2676766,"Osteopetrosis, Autosomal Recessive 7",,
178400,Distal myopathy with anterior tibial onset,C1847532,"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",,
178461,X-linked myopathy with postural muscle atrophy,C2678055,"MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",,
178461,X-linked myopathy with postural muscle atrophy,C2749106,"Emery-Dreifuss Muscular Dystrophy 6, X-Linked",,
178464,Hereditary myopathy with early respiratory failure,C1863599,Hereditary Myopathy with Early Respiratory Failure,,
178509,Perry syndrome,C1868594,Perry Syndrome,,
178512,Folliculotropic mycosis fungoides,C1627767,Follicular mycosis fungoides,,
178517,Localized pagetoid reticulosis,C1367970,Pagetoid reticulosis,,
1788,"Acrofacial dysostosis, Rodríguez type",C1860119,Acrofacial dysostosis Rodriguez type,,
179,Birdshot chorioretinopathy,C1853959,Birdshot chorioretinopathy,,
1794,Oculomaxillofacial dysostosis,C1838348,Oculomaxillofacial dysostosis,,
1797,Autosomal dominant spondylocostal dysostosis,C4274761,Autosomal dominant spondylocostal dysostosis,,
18,Distal renal tubular acidosis,C1704380,Distal Renal Tubular Acidosis,,
180,Choroideremia,C0008525,Choroideremia,H00-H59,Diseases of the eye and adnexa
180,Choroideremia,C0344297,Choroidal sclerosis,H00-H59,Diseases of the eye and adnexa
1802,Ghosal hematodiaphyseal dysplasia,C1856465,Ghosal Hematodiaphyseal Dysplasia,,
180226,Embryonal carcinoma,C0206659,Embryonal Carcinoma,,
180229,Polyembryoma,C0334518,Polyembryoma,,
180234,Mixed germ cell tumor,C0334524,Mixed Germ Cell Tumor,,
180242,Malignant tumor of fallopian tubes,C0153579,Malignant neoplasm of fallopian tube,C00-D48,Neoplasms
180242,Malignant tumor of fallopian tubes,C0238122,Fallopian Tube Carcinoma,,
180275,Paget disease of the nipple,C0030185,"Paget\'s Disease, Mammary",C00-D48,Neoplasms
180275,Paget disease of the nipple,C1704323,Paget\'s Disease of the Nipple,C00-D48,Neoplasms
1807,Focal facial dermal dysplasia type III,C1744559,Congenital ectodermal dysplasia of face,,
181,X-linked hypohidrotic ectodermal dysplasia,C0162359,Christ-Siemens-Touraine syndrome,,
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,C0265331,Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder),,
182050,MYH9-related disease,C0340978,May-Hegglin anomaly,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
182050,MYH9-related disease,C0398641,Epstein syndrome (disorder),,
182050,MYH9-related disease,C0403445,Fechtner syndrome (disorder),,
182050,MYH9-related disease,C1854520,SEBASTIAN SYNDROME,,
182067,Glial tumor,C0004114,Astrocytoma,,
182067,Glial tumor,C0014474,Ependymoma,,
182067,Glial tumor,C0017638,Glioma,,
182067,Glial tumor,C0206725,Subependymal Glioma,,
182067,Glial tumor,C0751396,Well Differentiated Oligodendroglioma,,
182067,Glial tumor,C1621958,Glioblastoma Multiforme,,
182067,Glial tumor,C2750850,GLIOMA SUSCEPTIBILITY 1,,
182090,Pulmonary arterial hypertension,C0152171,Idiopathic pulmonary hypertension,I00-I99,Diseases of the circulatory system
182090,Pulmonary arterial hypertension,C1701938,Associated Pulmonary Arterial Hypertension,,
182090,Pulmonary arterial hypertension,C2973725,Pulmonary arterial hypertension,,
182095,Interstitial lung disease,C0206062,"Lung Diseases, Interstitial",J00-J99,Diseases of the respiratory system
182130,Tumor of endocrine glands,C0014132,Endocrine Gland Neoplasms,,
1822,Dysplasia epiphysealis hemimelica,C0432282,Dysplasia epiphysealis hemimelica,,
1824,Lowry-Wood syndrome,C0796021,Lowry Wood syndrome,,
1826,Frontometaphyseal dysplasia,C0265293,Frontometaphyseal dysplasia,,
1827,Acromelic frontonasal dysplasia,C0796182,Acromelic frontonasal dysplasia,,
1827,Acromelic frontonasal dysplasia,C1863616,ACROMELIC FRONTONASAL DYSOSTOSIS,,
183,Eosinophilic granulomatosis with polyangiitis,C0008728,Eosinophilic granulomatosis with polyangiitis,M00-M99,Diseases of the musculoskeletal system and connective tissue
1830,Schimke immuno-osseous dysplasia,C0877024,Schimke immunoosseous dysplasia,,
1832,Lethal osteosclerotic bone dysplasia,C1850106,RAINE SYNDROME,,
183518,Rare hereditary ataxia,C0004138,"Ataxias, Hereditary",G00-G99,Diseases of the nervous system
1836,"Mesomelic dysplasia, Kantaputra type",C1835009,"MESOMELIC DYSPLASIA, KANTAPUTRA TYPE",,
183660,Severe combined immunodeficiency,C0085110,Severe Combined Immunodeficiency,,
183669,Agammaglobulinemia,C0001768,Agammaglobulinemia,,
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,C0162539,IgG Deficiency disorder,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,C3279824,Kappa-Chain Deficiency,,
183678,Hermansky-Pudlak syndrome with neutropenia,C1842362,HERMANSKY-PUDLAK SYNDROME 2,,
183707,Neutrophil immunodeficiency syndrome,C1842398,Neutrophil Immunodeficiency Syndrome,,
183713,Bacterial susceptibility due to TLR signaling pathway deficiency,C2677092,MYD88 Deficiency,,
184,Cherubism,C0008029,Cherubism,M00-M99,Diseases of the musculoskeletal system and connective tissue
1848,"Renal agenesis, bilateral",C1609433,Congenital absence of kidneys syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1848,"Renal agenesis, bilateral",C1619700,RENAL ADYSPLASIA,,
185,Scimitar syndrome,C0036400,Scimitar Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1851,Multicystic dysplastic kidney,C3714581,Multicystic Dysplastic Kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1852,X-linked retinal dysplasia,C3887971,"RETINAL DYSPLASIA, PRIMARY",,
1855,Spondyloenchondrodysplasia,C0432222,Spondyloenchondrodysplasia,,
1856,Spondyloperipheral dysplasia-short ulna syndrome,C0796173,Spondyloperipheral dysplasia short ulna,,
186,Primary biliary cholangitis,C0008312,Primary biliary cirrhosis,K00-K93,Diseases of the digestive system
1860,Thanatophoric dysplasia type 1,C1868678,"THANATOPHORIC DYSPLASIA, TYPE I (disorder)",,
1865,"Dyssegmental dysplasia, Silverman-Handmaker type",C1857100,Dyssegmental dysplasia,,
187,Citrullinemia,C0175683,Citrullinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
1871,Progressive cone dystrophy,C0271092,Progressive cone dystrophy (without rod involvement),,
1872,Cone rod dystrophy,C3489532,Cone-Rod Dystrophy 2,,
1873,Jalili syndrome,C2931074,Cone rod dystrophy amelogenesis imperfecta,,
1873,Jalili syndrome,C3495589,Jalili syndrome,,
1878,TRIM32-related  limb-girdle muscular dystrophy R8,C0270968,Limb-girdle muscular dystrophy type 2H,,
1879,Melorheostosis with osteopoikilosis,C2931505,Mixed sclerosing bone dystrophy,,
1879,Melorheostosis with osteopoikilosis,C3149695,Melorheostosis with Osteopoikilosis,,
188,Systemic capillary leak syndrome,C0343084,Capillary Leak Syndrome,,
1880,Ebstein malformation,C0013481,Ebstein Anomaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1885,Isolated ectopia lentis,C0013581,Ectopia Lentis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1885,Isolated ectopia lentis,C1851286,Ectopia lentis isolated,,
1885,Isolated ectopia lentis,C2746069,Familial ectopia lentis,,
189,Hidrotic ectodermal dysplasia,C0162361,Hidrotic Ectodermal Dysplasia,,
189427,Cushing syndrome due to macronodular adrenal hyperplasia,C1857451,Acth-Independent Macronodular Adrenal Hyperplasia,,
189439,Primary pigmented nodular adrenocortical disease,C4304832,Primary pigmented nodular adrenocortical disease,,
1896,EEC syndrome,C0406704,Rudiger syndrome 1,,
1896,EEC syndrome,C1851841,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1",,
1896,EEC syndrome,C1858562,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",,
1897,EEM syndrome,C1857041,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy",,
1899,Arthrochalasia Ehlers-Danlos syndrome,C0268345,"EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",,
19,2-hydroxyglutaric aciduria,C2746066,Combined D-2- and L-2-hydroxyglutaric aciduria,,
190,Coats disease,C0154832,Exudative retinopathy,H00-H59,Diseases of the eye and adnexa
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,C0268342,Ehlers-Danlos syndrome type 6,,
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,C2936777,Nevo syndrome (disorder),,
1901,Dermatosparaxis Ehlers-Danlos syndrome,C2700425,"EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",,
1902,Ehrlichiosis,C0085399,Ehrlichiosis,A00-B99,Certain infectious and parasitic diseases
191,Cockayne syndrome,C0009207,Cockayne Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1910,Fetal iodine syndrome,C0342200,Endemic Cretinism,E00-E90,"Endocrine, nutritional and metabolic diseases"
1912,Fetal hydantoin syndrome,C0265372,Fetal hydantoin syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1914,Vitamin K antagonist embryofetopathy,C0265374,Warfarin syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1915,Fetal alcohol syndrome,C0015923,Fetal Alcohol Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1915,Fetal alcohol syndrome,C0814154,Alcohol Related Neurodevelopmental Disorder,,
1915,Fetal alcohol syndrome,C2985290,Fetal Alcohol Spectrum Disorders,,
1915,Fetal alcohol syndrome,C3146244,Alcohol Related Birth Defect,,
1917,Fetal methylmercury syndrome,C0086626,Minamata Disease,,
192,Coffin-Lowry syndrome,C0265252,Coffin-Lowry syndrome,,
1926,Diabetic embryopathy,C3830518,Diabetic embryopathy,,
1928,Congenital lobar emphysema,C0265797,Congenital emphysema,,
1929,Rasmussen subacute encephalitis,C0393484,Rasmussen Syndrome,,
1929,Rasmussen subacute encephalitis,C2930868,Rasmussen subacute encephalitis,,
193,Cohen syndrome,C0265223,Cohen syndrome,,
1930,Herpes simplex virus encephalitis,C0019385,Herpetic meningoencephalitis,,
1930,Herpes simplex virus encephalitis,C0276226,Herpes encephalitis,A00-B99,Certain infectious and parasitic diseases
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",C2749864,MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA),,
1934,Early infantile epileptic encephalopathy,C0393706,Early infantile epileptic encephalopathy with suppression bursts,,
1935,Early myoclonic encephalopathy,C0270855,Early myoclonic encephalopathy,G00-G99,Diseases of the nervous system
1941,Juvenile absence epilepsy,C2750892,"EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1",,
1942,Myoclonic-astastic epilepsy,C0393702,Myoclonic Astatic Epilepsy,G00-G99,Diseases of the nervous system
1945,Rolandic epilepsy,C0376532,"Epilepsy, Rolandic",,
1945,Rolandic epilepsy,C2363129,Benign Rolandic Epilepsy,,
1946,Amelocerebrohypohidrotic syndrome,C0406740,Kohlschutter Tonz syndrome,,
1947,"Progressive epilepsy-intellectual disability syndrome, Finnish type",C1864923,Northern epilepsy syndrome,,
1949,Benign familial neonatal epilepsy,C0220669,Familial benign neonatal epilepsy,,
1949,Benign familial neonatal epilepsy,C0270851,Benign neonatal epilepsy,,
1949,Benign familial neonatal epilepsy,C1852581,"EPILEPSY, BENIGN NEONATAL, 2",,
1949,Benign familial neonatal epilepsy,C2751195,"Epilepsy, Benign Neonatal, 1, And-Or Myokymia",,
1949,Benign familial neonatal epilepsy,C3149074,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1",,
1949,Benign familial neonatal epilepsy,C3149075,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",,
195,Cat-eye syndrome,C0265493,Cat eye syndrome,,
1955,Spinocerebellar ataxia type 34,C1851481,Erythrokeratodermia with ataxia,,
1957,Esthesioneuroblastoma,C0206717,Olfactory Neuroblastoma,,
1959,Evans syndrome,C0272126,Evans syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
1974,Autosomal recessive faciodigitogenital syndrome,C1856871,Autosomal recessive facio-digito-genital syndrome,,
198,Occipital horn syndrome,C0268353,"Cutis laxa, x-linked",,
1980,Bilateral striopallidodentate calcinosis,C0393590,Fahr\'s syndrome (disorder),,
1986,Gollop-Wolfgang complex,C1856789,Femur bifid with monodactylous ectrodactyly,,
199,Cornelia de Lange syndrome,C0270972,Cornelia De Lange Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
1991,Cleft lip with or without cleft palate,C0008924,Cleft upper lip,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
199241,Pulmonary capillary hemangiomatosis,C0340548,Pulmonary capillary hemangiomatosis,,
199241,Pulmonary capillary hemangiomatosis,C0340848,"PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",,
199247,Corticosteroid-binding globulin deficiency,C1852529,Corticosteroid-Binding Globulin Deficiency,,
199247,Corticosteroid-binding globulin deficiency,C1969107,"Corticosteroid-Binding Globulin, Elevated",,
199285,Hereditary hypercarotenemia and vitamin A deficiency,C2676023,"Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant",,
199285,Hereditary hypercarotenemia and vitamin A deficiency,C2676024,"CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1",,
199302,Isolated cleft lip,C0008924,Cleft upper lip,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
199306,Cleft lip/palate,C0158646,Cleft palate with cleft lip,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
199318,15q13.3 microdeletion syndrome,C2677613,Chromosome 15q13.3 Microdeletion Syndrome,,
199332,Endocrine-cerebro-osteodysplasia syndrome,C2675227,Endocrine-Cerebroosteodysplasia,,
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,C2675184,"Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis",,
199340,"Muscular dystrophy, Selcen type",C2751831,"Myopathy, Myofibrillar, Bag3-Related",,
199343,EAST syndrome,C2748572,SeSAME syndrome,,
199348,Thiamine-responsive encephalopathy,C1843807,"Basal ganglia disease, biotin-responsive",,
199351,Adult-onset dystonia-parkinsonism,C2751842,"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",,
199354,CARASIL,C1838577,Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy,,
1997,Blepharo-cheilo-odontic syndrome,C1861536,Blepharo-cheilo-dontic syndrome,,
20,3-hydroxy-3-methylglutaric aciduria,C0268601,HMG CoA lyase deficiency,,
20,3-hydroxy-3-methylglutaric aciduria,C1533587,Hydroxymethylglutaric aciduria,,
2004,Laryngotracheoesophageal cleft,C1840311,Laryngeal cleft,,
200418,Immunodeficiency with factor I anomaly,C3463916,Complement Factor I (C3 inactivator) deficiency,,
201,Cowden syndrome,C0018553,"Hamartoma Syndrome, Multiple",,
201,Cowden syndrome,C0391826,Lhermitte-Duclos disease,,
201,Cowden syndrome,C1834711,CEREBELLOPARENCHYMAL DISORDER VI,,
201,Cowden syndrome,C1834712,Cerebellar Granule Cell Hypertrophy and Megalencephaly,,
201,Cowden syndrome,C1866398,Proteus-Like Syndrome (disorder),,
201,Cowden syndrome,C1959582,PTEN Hamartoma Tumor Syndrome,,
2014,Cleft palate,C0008925,Cleft Palate,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2014,Cleft palate,C1837218,"Cleft palate, isolated",,
2016,Cleft palate-lateral synechia syndrome,C0795898,Cleft Palate-Lateral Synechia Syndrome,,
2020,Congenital fiber-type disproportion myopathy,C0546264,Congenital Fiber Type Disproportion,G00-G99,Diseases of the nervous system
2021,Fibrochondrogenesis,C0265282,Fibrochondrogenesis,,
2021,Fibrochondrogenesis,C3278138,FIBROCHONDROGENESIS 1,,
2022,Endocardial fibroelastosis,C0014117,Endocardial Fibroelastosis,I00-I99,Diseases of the circulatory system
2023,Undifferentiated pleomorphic sarcoma,C0334463,Malignant Fibrous Histiocytoma,,
2024,Hereditary gingival fibromatosis,C0399440,Hereditary gingival fibromatosis,,
2026,Gingival fibromatosis-hypertrichosis syndrome,C1851120,"Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia",,
2028,Juvenile hyaline fibromatosis,C2745948,"Hyalinosis, Systemic",,
2030,Fibrosarcoma,C0016057,Fibrosarcoma,,
2032,Idiopathic pulmonary fibrosis,C0085786,Hamman-Rich syndrome,J00-J99,Diseases of the respiratory system
2032,Idiopathic pulmonary fibrosis,C1800706,Idiopathic Pulmonary Fibrosis,J00-J99,Diseases of the respiratory system
2034,Filariasis,C0016085,Filariasis,A00-B99,Certain infectious and parasitic diseases
2034,Filariasis,C0392663,Infection by Wuchereria bancrofti,A00-B99,Certain infectious and parasitic diseases
2035,Lymphatic filariasis,C0013884,Filarial Elephantiases,A00-B99,Certain infectious and parasitic diseases
2036,Scalp-ear-nipple syndrome,C1867020,SCALP-EAR-NIPPLE SYNDROME,,
2038,Pulmonary arteriovenous malformation,C0155675,Pulmonary Arteriovenous Fistulas,I00-I99,Diseases of the circulatory system
204,Sporadic Creutzfeldt-Jakob disease,C0022336,Creutzfeldt-Jakob disease,A00-B99,Certain infectious and parasitic diseases
2044,Floating-Harbor syndrome,C0729582,Floating-harbor syndrome,,
205,Crigler-Najjar syndrome,C0010324,"Crigler Najjar syndrome, type 1",E00-E90,"Endocrine, nutritional and metabolic diseases"
2050,Cole-Carpenter syndrome,C1862178,Cole Carpenter syndrome,,
2050,Cole-Carpenter syndrome,C4317154,COLE-CARPENTER SYNDROME 1,,
2052,Fraser syndrome,C0265233,Cryptophthalmos syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2052,Fraser syndrome,C4540036,FRASER SYNDROME 2,,
2052,Fraser syndrome,C4540040,FRASER SYNDROME 3,,
2053,Freeman-Sheldon syndrome,C0265224,Freeman-Sheldon syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2056,Essential fructosuria,C0268160,Deficiency of fructokinase,E00-E90,"Endocrine, nutritional and metabolic diseases"
2059,Fryns syndrome,C0220730,Fryns syndrome,,
206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,C0023374,Lesch-Nyhan Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
206436,Infantile Krabbe disease,C0751273,Infantile Globoid Cell Leukodystrophy,,
2065,Galloway-Mowat syndrome,C0795949,Galloway Mowat syndrome,,
206549,Anoctamin-5-related  limb-girdle muscular dystrophy R12,C1969785,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",,
206554,Fukutin-related  limb-girdle muscular dystrophy R13,C1969040,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",,
206559,POMT2-related  limb-girdle muscular dystrophy R14,C3150418,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",,
206564,POMGNT1-related  limb-girdle muscular dystrophy R15,C3150417,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",,
206569,Immune-mediated necrotizing myopathy,C3267047,Autoimmune necrotizing myopathy,,
206580,Autosomal recessive lower motor neuron disease with childhood onset,C1970211,"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",,
206583,Adult polyglucosan body disease,C1849722,"Polyglucosan Body Disease, Adult Form",,
2066,Gamma-aminobutyric acid transaminase deficiency,C0342708,Gamma aminobutyric acid transaminase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
206647,Myotonic dystrophy,C0027126,Myotonic Dystrophy,G00-G99,Diseases of the nervous system
206647,Myotonic dystrophy,C0410226,Congenital Myotonic Dystrophy,,
2067,GAPO syndrome,C0406723,"Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy",,
206973,Congenital myotonia,C0027127,Myotonia Congenita,,
207,Crouzon disease,C2931196,Craniofacial dysostosis type 1,,
2070,Eosinophilic gastroenteritis,C1262481,Eosinophilic gastroenteritis,,
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,C1856476,"Gaucher Disease, Type Iiic",,
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,C2931585,Gaucher-like disease,,
2073,Narcolepsy type 1,C0027404,Narcolepsy,G00-G99,Diseases of the nervous system
2073,Narcolepsy type 1,C0751362,Narcolepsy-Cataplexy Syndrome,G00-G99,Diseases of the nervous system
2078,Geroderma osteodysplastica,C0432255,Geroderma osteodysplastica,,
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,C1869115,"Weill-Marchesani Syndrome, Autosomal Dominant",,
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,C2931588,GEMSS syndrome,,
208513,Spinocerebellar ataxia type 29,C1861732,SPINOCEREBELLAR ATAXIA 29,,
2086,Optic pathway glioma,C0796418,Visual Pathway Glioma,,
208650,Cryopyrin-associated periodic syndrome,C2316212,Cryopyrin-Associated Periodic Syndromes,M00-M99,Diseases of the musculoskeletal system and connective tissue
2088,Fanconi-Bickel Syndrome,C3495427,Fanconi-Bickel Syndrome,,
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,C1855861,"Glycogen Storage Disease 0, Liver",,
209,Cutis laxa,C0010495,Cutis Laxa,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2092,Focal dermal hypoplasia,C0016395,Focal Dermal Hypoplasia,,
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,C1854058,"SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",,
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,C1866777,"Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",,
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,C1834690,"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",,
209370,Severe neonatal-onset encephalopathy with microcephaly,C1968556,"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",,
2095,Gorlin-Chaudhry-Moss syndrome,C0345382,Gorlin Chaudhry Moss syndrome,,
2098,"Acromesomelic dysplasia, Grebe type",C0265260,"Chondrodysplasia, Grebe type",,
209867,Autosomal dominant rhegmatogenous retinal detachment,C1836081,"RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",,
209905,Brain-lung-thyroid syndrome,C1970269,"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",,
209908,Childhood apraxia of speech,C0750927,"Apraxia, Developmental Verbal",,
209916,Extraskeletal myxoid chondrosarcoma,C1275278,Extraskeletal Myxoid Chondrosarcoma,,
209932,Cone dystrophy with supernormal rod response,C1835897,Retinal Cone Dystrophy 3B,,
209951,Autosomal recessive spastic paraplegia type 18,C2749936,"SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)",,
209964,Solitary rectal ulcer syndrome,C4274343,Solitary rectal ulcer syndrome,,
209967,Episodic ataxia type 6,C2675211,"EPISODIC ATAXIA, TYPE 6 (disorder)",,
209970,Episodic ataxia type 7,C2677843,"Episodic Ataxia, Type 7",,
209981,IRIDA syndrome,C0085576,Iron-Refractory Iron Deficiency Anemia,,
210110,Intermediate osteopetrosis,C0432261,Osteopetrosis - intermediate type,,
210110,Intermediate osteopetrosis,C1969093,"Osteopetrosis, Autosomal Recessive 6",,
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,C2748507,INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY,M00-M99,Diseases of the musculoskeletal system and connective tissue
210122,Congenital alveolar capillary dysplasia,C0031190,Persistent Fetal Circulation Syndrome,P00-P96,Certain conditions originating in the perinatal period
210122,Congenital alveolar capillary dysplasia,C2677362,Alveolar capillary dysplasia,,
210128,Urocanic aciduria,C0268514,Urocanase deficiency,,
210141,Inherited congenital spastic tetraplegia,C2751938,"Cerebral Palsy, Spastic Quadriplegic, 1",,
210144,"Lethal polymalformative syndrome, Boissel type",C2752001,"Growth Retardation, Developmental Delay, Coarse Facies, And Early Death",,
210163,"Congenital lethal myopathy, Compton-North type",C2675527,"Myopathy, Congenital, Compton-North",,
2102,GTP cyclohydrolase I deficiency,C0268467,"Hyperphenylalaninemia, BH4-Deficient, B",,
2102,GTP cyclohydrolase I deficiency,C2673535,"DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",,
2103,Guillain-Barré syndrome,C0018378,Guillain-Barre Syndrome,G00-G99,Diseases of the nervous system
210548,Macrocephaly-intellectual disability-autism syndrome,C1854416,MACROCEPHALY/AUTISM SYNDROME,,
210571,Dystonia 16,C2677567,DYSTONIA 16 (disorder),,
2108,Hallermann-Streiff syndrome,C0018522,Hallermann\'s Syndrome,,
211017,Spinocerebellar ataxia type 30,C1861732,SPINOCEREBELLAR ATAXIA 29,,
211017,Spinocerebellar ataxia type 30,C2936793,Spinocerebellar ataxia 30,,
211067,Episodic ataxia type 5,C1866039,"EPISODIC ATAXIA, TYPE 5",,
2114,"Hip dysplasia, Beukes type",C1840572,"HIP DYSPLASIA, BEUKES TYPE",,
2116,Hartnup disease,C0018609,Hartnup Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
2117,Hartsfield syndrome,C1845146,"Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",,
2118,Hawkinsinuria,C2931042,Hawkinsinuria,,
212,Cystathioninuria,C0220993,Cystathioninuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
212,Cystathioninuria,C0268616,Gamma-cystathionase deficiency,,
212,Cystathioninuria,C3495552,Cystathionase Deficiency,,
2122,Kaposiform hemangioendothelioma,C1367420,Kaposiform Hemangioendothelioma,,
2126,Solitary fibrous tumour/hemangiopericytoma,C0018922,hemangiopericytoma,,
2126,Solitary fibrous tumour/hemangiopericytoma,C1266119,Solitary fibrous tumor,,
213,Cystinosis,C4316899,Cystinosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
2130,Hemimelia,C0018987,Hemimelia,,
2131,Alternating hemiplegia of childhood,C0338488,Alternating hemiplegia of childhood,,
2132,Hemoglobin C disease,C0019021,Hemoglobin C Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2133,Hemoglobin E disease,C0238159,Hemoglobin E disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2134,Atypical hemolytic uremic syndrome,C2931788,Atypical Hemolytic Uremic Syndrome,,
213500,Ovarian cancer,C1140680,Malignant neoplasm of ovary,C00-D48,Neoplasms
213504,Adenocarcinoma of ovary,C0948216,Ovarian adenocarcinoma,,
213512,Malignant mixed Müllerian tumor of the ovary,C0392998,Carcinosarcoma of ovary,,
213528,Rare adenocarcinoma of the breast,C0858252,Breast adenocarcinoma,,
213531,Metaplastic carcinoma of the breast,C1334708,Metaplastic breast carcinoma,,
2136,Hennekam syndrome,C0340834,Hennekam lymphangiectasia lymphedema syndrome,,
2137,Autoimmune hepatitis,C0241910,"Hepatitis, Autoimmune",,
213767,Squamous cell carcinoma of the cervix uteri,C0279671,Cervical Squamous Cell Carcinoma,,
213772,Adenocarcinoma of the cervix uteri,C0279672,Cervical Adenocarcinoma,,
2138,"46,XX ovotesticular disorder of sex development",C0266361,True Hermaphroditism (disorder),,
2138,"46,XX ovotesticular disorder of sex development",C2748895,Ovotesticular Disorders of Sex Development,,
214,Cystinuria,C0010691,Cystinuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
214,Cystinuria,C0268646,Isolated cystinuria,,
214,Cystinuria,C1857388,"Cystinuria, Type A",,
214,Cystinuria,C1857389,"Cystinuria, Type B",,
2140,Congenital diaphragmatic hernia,C0235833,Congenital diaphragmatic hernia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2143,Donnai-Barrow syndrome,C1857277,Donnai-Barrow syndrome,,
2148,Lissencephaly type 1 due to doublecortin gene mutation,C1848070,Lissencephaly and agenesis of corpus callosum,,
2148,Lissencephaly type 1 due to doublecortin gene mutation,C1848199,X-Linked Lissencephaly,,
2148,Lissencephaly type 1 due to doublecortin gene mutation,C1848200,"SUBCORTICAL BAND HETEROTOPIA, X-LINKED",,
2148,Lissencephaly type 1 due to doublecortin gene mutation,C1848201,Subcortical Band Heterotopia,,
215,Congenital stationary night blindness,C0339535,"Night blindness, congenital stationary",,
2152,Mowat-Wilson syndrome,C1856113,Mowat-Wilson syndrome,,
2157,Histidinemia,C0220992,Histidinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
2157,Histidinemia,C0268642,Histidinuria renal tubular defect,,
2158,Histidinuria-renal tubular defect syndrome,C0268642,Histidinuria renal tubular defect,,
216,Neuronal ceroid lipofuscinosis,C0027877,Neuronal Ceroid-Lipofuscinoses,E00-E90,"Endocrine, nutritional and metabolic diseases"
2162,Holoprosencephaly,C0078982,Arhinencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2162,Holoprosencephaly,C0079541,Holoprosencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2162,Holoprosencephaly,C0266667,Cyclocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2162,Holoprosencephaly,C0431363,Alobar Holoprosencephaly,,
2162,Holoprosencephaly,C3711749,Nonsyndromic Holoprosencephaly,,
216675,Transposition of the great arteries,C0040761,Transposition of Great Vessels,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
216796,Osteogenesis imperfecta type 1,C0023931,Lobstein Disease,,
216804,Osteogenesis imperfecta type 2,C0268358,"Osteogenesis imperfecta, dominant perinatal lethal",,
216812,Osteogenesis imperfecta type 3,C0268362,Osteogenesis imperfecta type III (disorder),,
216820,Osteogenesis imperfecta type 4,C0268363,Osteogenesis imperfecta type IV (disorder),,
216828,Osteogenesis imperfecta type 5,C2931093,"Osteogenesis imperfecta, type 5",,
2169,Methylcobalamin deficiency type cblE,C1856057,"Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type",,
217,Isolated Dandy-Walker malformation,C0010964,Dandy-Walker Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2170,Methylcobalamin deficiency type cblG,C1855128,"Methylcobalamin Deficiency, CblG Type",,
217012,Spinocerebellar ataxia type 31,C1861736,SPINOCEREBELLAR ATAXIA 31 (disorder),,
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,C1842197,"Charcot-Marie-Tooth Disease, Recessive Intermediate A",,
217059,Isolated congenital digital clubbing,C0345408,Hereditary clubbing,,
217067,Pouchitis,C0376620,Pouchitis,K00-K93,Diseases of the digestive system
217071,Renal cell carcinoma,C0007134,Renal Cell Carcinoma,,
217074,Rare carcinoma of pancreas,C0030297,Pancreatic Neoplasm,,
217074,Rare carcinoma of pancreas,C0235974,Pancreatic carcinoma,,
217074,Rare carcinoma of pancreas,C0346647,Malignant neoplasm of pancreas,C00-D48,Neoplasms
217260,Progressive multifocal leukoencephalopathy,C0023524,"Leukoencephalopathy, Progressive Multifocal",A00-B99,Certain infectious and parasitic diseases
217266,BNAR syndrome,C2750433,Bifid Nose With Or Without Anorectal And Renal Anomalies,,
217330,REN-related autosomal dominant tubulointerstitial kidney disease,C2751310,"Hyperuricemic Nephropathy, Familial Juvenile 2",,
217335,RIN2 syndrome,C2751321,"Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",,
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,C3278664,"LIVER FAILURE, INFANTILE, TRANSIENT",,
217377,Microduplication Xp11.22p11.23 syndrome,C2749022,Chromosome Xp11.23-P11.22 Duplication Syndrome,,
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,C2751584,Neurodegeneration Due To Cerebral Folate Transport Deficiency,,
217385,17p13.3 microduplication syndrome,C2750748,Chromosome 17p13.3 Duplication Syndrome,,
217390,Combined immunodeficiency due to DOCK8 deficiency,C1968689,"Hyper-Immunoglobulin E Syndrome, Autosomal Recessive",,
217396,Progressive polyneuropathy with bilateral striatal necrosis,C3150973,THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE),,
217407,Hereditary hypotrichosis with recurrent skin vesicles,C2751292,Hypotrichosis And Recurrent Skin Vesicles,,
217557,Pulmonary interstitial glycogenosis,C3161106,Pulmonary interstitial glycogenosis,J00-J99,Diseases of the respiratory system
217560,Neuroendocrine cell hyperplasia of infancy,C3161105,Neuroendocrine cell hyperplasia of infancy,J00-J99,Diseases of the respiratory system
217563,Neonatal acute respiratory distress due to SP-B deficiency,C1968602,"Surfactant Metabolism Dysfunction, Pulmonary, 1",,
2176,Infantile systemic hyalinosis,C2745948,"Hyalinosis, Systemic",,
217622,Sensorineural deafness with dilated cardiomyopathy,C1854368,"Cardiomyopathy, Dilated, 1J",,
217656,Familial isolated arrhythmogenic right ventricular dysplasia,C0265857,Uhl anomaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
217656,Familial isolated arrhythmogenic right ventricular dysplasia,C1862511,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",,
2177,Hydranencephaly,C0020225,Hydranencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
218,Darier disease,C0022595,Keratosis Follicularis,E00-E90,"Endocrine, nutritional and metabolic diseases"
218,Darier disease,C1852296,"Darier Disease, Acral Hemorrhagic Type",,
218,Darier disease,C1852297,"Darier Disease, Segmental",,
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,C0265216,X-linked hydrocephalus syndrome,,
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,C1844006,"Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",,
2185,Congenital hydrocephalus,C0020256,Congenital Hydrocephalus,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2189,Hydrolethalus,C2931104,Hydrolethalus syndrome,,
219,Delta-sarcoglycan-related  limb-girdle muscular dystrophy R6,C1832525,Limb-girdle muscular dystrophy type 2F,,
2195,Dicarboxylic aminoaciduria,C1857253,Dicarboxylicaminoaciduria,,
2196,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,C1855466,"Hypomagnesemia 5, Renal, with Ocular Involvement",,
2196,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,C2931121,Meier Blumberg Imahorn syndrome,,
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,C1835664,TYLOSIS WITH ESOPHAGEAL CANCER,,
22,Succinic semialdehyde dehydrogenase deficiency,C0268631,succinic semialdehyde dehydrogenase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
220,Denys-Drash syndrome,C0950121,Denys-Drash Syndrome,,
2202,Palmoplantar keratoderma-deafness syndrome,C1835672,Palmoplantar Keratoderma with Deafness,,
2203,Hyperlysinemia,C0268553,Hyperlysinemias,E00-E90,"Endocrine, nutritional and metabolic diseases"
2203,Hyperlysinemia,C0936256,Lysine Alpha-Ketoglutarate Reductase Deficiency Disease,,
220386,Semilobar holoprosencephaly,C0751617,Semilobar Holoprosencephaly,,
220393,Diffuse cutaneous systemic sclerosis,C1258104,Diffuse Scleroderma,,
220407,Limited systemic sclerosis,C0748540,"Scleroderma, Limited",,
220436,Quebec platelet disorder,C1866423,Quebec platelet disorder,,
220465,Laron syndrome with immunodeficiency,C1855548,Laron syndrome type 2,,
220489,Rare hereditary hemochromatosis,C0018995,Hemochromatosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
220489,Rare hereditary hemochromatosis,C0282193,Iron Overload,,
220493,Joubert syndrome with ocular defect,C4274118,Joubert syndrome with ocular defect,,
220497,Joubert syndrome with renal defect,C1846790,JOUBERT SYNDROME 4 (disorder),,
2207,Familial primary hyperparathyroidism,C0271846,Familial hyperparathyroidism,,
2209,Maternal phenylketonuria,C0085547,"Phenylketonuria, Maternal",,
221,Dermatomyositis,C0011633,Dermatomyositis,M00-M99,Diseases of the musculoskeletal system and connective tissue
221,Dermatomyositis,C0221056,Adult type dermatomyositis,M00-M99,Diseases of the musculoskeletal system and connective tissue
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,C3810325,"POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS",,
221046,Poikiloderma with neutropenia,C1858723,Poikiloderma with Neutropenia,,
221054,Acrocephalopolydactyly,C1860157,Elejalde Disease,,
221061,Familial cerebral cavernous malformation,C1366911,Cerebral Cavernous Malformations 1,,
221061,Familial cerebral cavernous malformation,C2919945,Cavernous Hemangioma of Brain,,
221061,Familial cerebral cavernous malformation,C2931263,Familial cerebral cavernous malformation,,
221091,Trigeminal neuralgia,C0040997,Trigeminal Neuralgia,G00-G99,Diseases of the nervous system
221126,Fowler vasculopaty,C1856972,Encephaloclastic Proliferative Vasculopathy,,
221126,Fowler vasculopaty,C3203738,Fowler syndrome,,
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",C2750804,"Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities",,
2222,Hypertrichosis lanuginosa congenita,C0235864,Congenital hypertrichosis lanuginosa,,
2224,Hypertryptophanemia,C2931837,Familial hypertryptophanemia,,
2228,Hypodontia-dysplasia of nails syndrome,C0406716,Hypodontia and nail dysgenesis,,
2228,Hypodontia-dysplasia of nails syndrome,C0406735,Hypoplastic enamel-onycholysis-hypohidrosis syndrome,,
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,C0796031,Malouf syndrome,,
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,C0796083,Najjar syndrome,,
223,Nephrogenic diabetes insipidus,C0162283,Nephrogenic Diabetes Insipidus,N00-N99,Diseases of the genitourinary system
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,C1840333,Barakat syndrome,,
223727,Bone sarcoma,C0029463,Osteosarcoma,,
223727,Bone sarcoma,C1704327,Bone Sarcoma,,
2238,Familial isolated hypoparathyroidism,C1832648,Hypoparathyroidism familial isolated,,
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,C0342344,Hypoparathyroidism - X-linked,,
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,C1321907,Congenital absence of parathyroid gland,,
224,Neonatal diabetes mellitus,C0158981,Neonatal diabetes mellitus,P00-P96,Certain conditions originating in the perinatal period
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,C1608393,Megacystis microcolon intestinal hypoperistalsis syndrome,,
2248,Hypoplastic left heart syndrome,C0152101,Hypoplastic Left Heart Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
225,Maternally-inherited diabetes and deafness,C0342289,Diabetes-deafness syndrome maternally transmitted (disorder),,
225123,Hemochromatosis type 3,C1858664,"HEMOCHROMATOSIS, TYPE 3",,
225154,Familial infantile bilateral striatal necrosis,C0795996,"STRIATONIGRAL DEGENERATION, INFANTILE (disorder)",,
2253,Foveal hypoplasia-presenile cataract syndrome,C2931644,O\'Donnell Pappas syndrome,,
2254,Pontocerebellar hypoplasia type 1,C1843504,Pontocerebellar Hypoplasia Type 1,,
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,C2931296,Yorifuji Okuno syndrome,,
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,C3888085,PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS,,
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,C4012454,"HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",,
226,Dihydropteridine reductase deficiency,C0268465,Phenylketonuria II,,
2260,Oligomeganephronia,C0431694,Oligomeganephronic hypoplasia of kidney,,
226298,Central congenital hypothyroidism,C3665349,Secondary hypothyroidism,,
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,C1839988,Ichthyosis follicularis atrichia photophobia syndrome,,
227796,Fundus albipunctatus,C0311338,Fundus Albipunctatus,,
227796,Fundus albipunctatus,C1405854,Retinitis punctata albescens (disorder),,
227976,"Autosomal recessive optic atrophy, OPA7 type",C2751812,OPTIC ATROPHY 7 (disorder),,
228000,Idiopathic CD4 lymphocytopenia,C3809768,IMMUNODEFICIENCY 13,,
228003,Severe combined immunodeficiency due to CORO1A deficiency,C3809383,IMMUNODEFICIENCY 8,,
228113,Anal fistula,C0205929,Anal Fistula,K00-K93,Diseases of the digestive system
228123,Coccidioidomycosis,C0009186,Coccidioidomycosis,A00-B99,Certain infectious and parasitic diseases
228140,"Idiopathic ventricular fibrillation, non Brugada type",C2751898,"Ventricular Fibrillation, Paroxysmal Familial, 1",,
228140,"Idiopathic ventricular fibrillation, non Brugada type",C4017668,"VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO",,
228165,Baló concentric sclerosis,C0004712,Balo\'s Concentric Sclerosis,,
228169,Autosomal dominant striatal neurodegeneration,C1836694,"Striatal Degeneration, Autosomal Dominant",,
228169,Autosomal dominant striatal neurodegeneration,C4310808,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",,
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,C2750090,"Charcot-Marie-Tooth Disease, Axonal, Type 2n",,
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,C1847902,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",,
228285,Acquired cutis laxa,C0406549,"Cutis laxa, acquired type",,
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",C1833508,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",,
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",C1833511,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",,
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",C1833518,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",,
228312,"Autoimmune hemolytic anemia, cold type",C0175816,Cold Hemagglutinin Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
228329,CLN1 disease,C0268281,Infantile neuronal ceroid lipofuscinosis,,
228329,CLN1 disease,C1850451,"CEROID LIPOFUSCINOSIS, NEURONAL, 1",,
228329,CLN1 disease,C2931673,"Ceroid lipofuscinosis, neuronal 1, infantile",,
228384,5q14.3 microdeletion syndrome,C4304529,5q14.3 microdeletion syndrome,,
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,C2750066,Spondylo-Megaepiphyseal-Metaphyseal Dysplasia,,
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,C3150703,FRONTONASAL DYSPLASIA 2,,
228402,2q23.1 microdeletion syndrome,C4304532,2q23.1 microdeletion syndrome,,
228410,Polyvalvular heart disease syndrome,C4509918,Polyvalvular heart disease syndrome,,
228415,5q35 microduplication syndrome,C4304526,5q35 microduplication syndrome,,
228423,Monocytopenia with susceptibility to infections,C3280030,GATA2 Deficiency,,
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,C3150649,"AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM",,
2289,Neuronal intranuclear inclusion disease,C1863843,Neuronal intranuclear inclusion disease,,
2290,Microvillus inclusion disease,C0341306,Microvillus inclusion disease,,
2297,Insulin-resistance syndrome type A,C0342278,"Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",,
2297,Insulin-resistance syndrome type A,C0342336,Insulin resistance - type A,,
229717,Isolated agammaglobulinemia,C0001768,Agammaglobulinemia,,
229717,Isolated agammaglobulinemia,C0086438,Hypogammaglobulinemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
229717,Isolated agammaglobulinemia,C0162530,"Porphyria, Erythropoietic",E00-E90,"Endocrine, nutritional and metabolic diseases"
2299,Aortic arch interruption,C0152419,Interrupted aortic arch,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
23,Argininosuccinic aciduria,C0268547,Argininosuccinic Aciduria,,
230,Dopamine beta-hydroxylase deficiency,C0342687,dopamine beta hydroxylase deficiency,,
2301,Congenital short bowel syndrome,C0021847,Intestinal Pseudo-Obstruction,,
2302,Asbestos intoxication,C0003949,Asbestosis,J00-J99,Diseases of the respiratory system
2307,IVIC syndrome,C1327918,Oculootoradial syndrome,,
2308,Jacobsen syndrome,C0795841,Jacobsen Distal 11q Deletion Syndrome,,
230839,Classical-like Ehlers-Danlos syndrome type 1,C1848029,Ehlers-Danlos syndrome caused by tenascin-X deficiency,,
230851,Cardiac-valvular Ehlers-Danlos syndrome,C1857034,"Ehlers-Danlos syndrome, cardiac valvular form",,
2309,Pachyonychia congenita,C0265334,Pachyonychia Congenita,,
231040,Familial generalized lentiginosis,C3492944,Lentiginosis Profusa,,
2311,Autosomal recessive spondylocostal dysostosis,C0265343,Jarcho-Levin syndrome,,
2311,Autosomal recessive spondylocostal dysostosis,C1837549,"SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",,
231108,Familial rhabdoid tumor,C2985524,Rhabdoid Tumor Predisposition Syndrome,,
231154,Combined immunodeficiency due to partial RAG1 deficiency,C1835931,"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY",,
231178,Usher syndrome type 2,C0339534,Usher syndrome type 2,,
231178,Usher syndrome type 2,C1568249,"Usher Syndrome, Type II",,
231183,Usher syndrome type 3,C1568248,"Usher Syndrome, Type III",,
231214,Beta-thalassemia major,C0002875,Cooley\'s anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
231222,Beta-thalassemia intermedia,C0271979,Thalassemia Intermedia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
231222,Beta-thalassemia intermedia,C0472767,Beta thalassemia intermedia,,
231226,Dominant beta-thalassemia,C1858990,"Beta Thalassemia, Dominant Inclusion Body Type",,
231237,Delta-beta-thalassemia,C0271985,Delta-Beta Thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
231249,Hemoglobin E-beta-thalassemia syndrome,C0472777,Hemoglobin E/beta thalassemia disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,C1839161,"Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",,
2314,Autosomal dominant hyper-IgE syndrome,C2936739,"Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",,
2314,Autosomal dominant hyper-IgE syndrome,C3489795,"Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",,
2314,Autosomal dominant hyper-IgE syndrome,C3887645,Job Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
231401,Alpha-thalassemia-myelodysplastic syndrome,C0585216,Alpha-Thalassemia Myelodysplasia Syndrome,,
2315,Johanson-Blizzard syndrome,C0175692,Johanson-Blizzard syndrome,,
231531,Hermansky-Pudlak syndrome type 7,C3279756,HERMANSKY-PUDLAK SYNDROME 7,,
231537,Hermansky-Pudlak syndrome type 8,C3888026,HERMANSKY-PUDLAK SYNDROME 8,,
231568,Generalized dominant dystrophic epidermolysis bullosa,C0079136,Cockayne-Touraine Disease,,
231568,Generalized dominant dystrophic epidermolysis bullosa,C0432322,"Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)",,
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,C3489787,"Pituitary Hormone Deficiency, Combined, 3",,
2318,Joubert syndrome with oculorenal defect,C1855675,Arima syndrome,,
232,Sickle cell anemia,C0002895,"Anemia, Sickle Cell",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2322,Kabuki syndrome,C0796004,Kabuki make-up syndrome,,
2323,Sanjad-Sakati syndrome,C1855840,HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME,,
233,Duane retraction syndrome,C0013261,Duane Retraction Syndrome,H00-H59,Diseases of the eye and adnexa
233,Duane retraction syndrome,C0994516,Type 1 Duane Retraction Syndrome,,
2330,Kasabach-Merritt syndrome,C0221025,Kasabach-Merritt syndrome,,
2331,Kawasaki disease,C0026691,Mucocutaneous Lymph Node Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
2332,KBG syndrome,C0220687,KBG syndrome,,
2333,Kenny-Caffey syndrome,C0265291,Kenny-Caffey syndrome,,
2333,Kenny-Caffey syndrome,C4316787,"Kenny-Caffey syndrome, type 2",,
2334,Autosomal dominant keratitis,C1835698,"Keratitis, hereditary",,
2337,Non-epidermolytic palmoplantar keratoderma,C1833030,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",,
2337,Non-epidermolytic palmoplantar keratoderma,C1838359,"Diffuse palmoplantar keratoderma, Bothnian type",,
234,Dubin-Johnson syndrome,C0022350,"Jaundice, Chronic Idiopathic",E00-E90,"Endocrine, nutritional and metabolic diseases"
2340,Keratosis follicularis spinulosa decalvans,C0343057,Keratosis pilaris decalvans,,
2340,Keratosis follicularis spinulosa decalvans,C3887525,"Keratosis Follicularis Spinulosa Decalvans, X-Linked",,
2342,Haim-Munk syndrome,C1855627,HAIM-MUNK SYNDROME,,
2343,Isolated cloverleaf skull syndrome,C1860050,Cloverleaf skull,,
2345,Isolated Klippel-Feil syndrome,C0022738,Klippel-Feil Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2346,Angioosteohypertrophic syndrome,C0022739,Klippel-Trenaunay-Weber Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2348,"Familial partial lipodystrophy, Dunnigan type",C1720860,"Familial Partial Lipodystrophy, Type 2",,
2349,Muscular pseudohypertrophy-hypothyroidism syndrome,C0270958,Kocher-Debre-Semelaigne syndrome,,
235,Dubowitz syndrome,C0175691,Dubowitz syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2356,Arachnoid cyst,C0078981,Arachnoid Cysts,G00-G99,Diseases of the nervous system
2357,Bronchogenic cyst,C0006281,Congenital bronchogenic cyst,,
235936,Familial hyperaldosteronism,C3713420,Familial Hyperaldosteronism,,
2363,Lacrimoauriculodentodigital syndrome,C0265269,Lacrimoauriculodentodigital syndrome,,
2368,Gastroschisis,C0238577,Abdominal wall defect,,
2368,Gastroschisis,C0265706,Gastroschisis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2370,Larsen-like osseous dysplasia-short stature syndrome,C1837884,Larsen-Like Syndrome,,
2377,Laurence-Moon syndrome,C0023138,Laurence-Moon Syndrome,,
2378,Laurin-Sandrow syndrome,C1851100,LAURIN-SANDROW SYNDROME,,
2378,Laurin-Sandrow syndrome,C1851101,"Laurin-Sandrow Syndrome, Segmental",,
2379,Early-onset parkinsonism-intellectual disability syndrome,C0796195,Waisman syndrome,,
2380,Legg-Calvé-Perthes disease,C0023234,Legg-Calve-Perthes Disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
2382,Lennox-Gastaut syndrome,C0238111,Lennox-Gastaut syndrome,G00-G99,Diseases of the nervous system
238329,Severe X-linked mitochondrial encephalomyopathy,C3151753,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6,,
238446,15q11q13 microduplication syndrome,C2675336,Duplication 15q11-q13 Syndrome,,
238455,Infantile dystonia-parkinsonism,C2751067,"Parkinsonism-Dystonia, Infantile",,
238459,SLC35A1-CDG,C1970344,"Congenital Disorder Of Glycosylation, Type IIF",,
238468,Hypohidrotic ectodermal dysplasia,C0162359,Christ-Siemens-Touraine syndrome,,
238468,Hypohidrotic ectodermal dysplasia,C0406702,"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive",,
238468,Hypohidrotic ectodermal dysplasia,C1706004,Anhydrotic Ectodermal Dysplasias,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
238475,Familial hypercholanemia,C1843139,"Hypercholanemia, Familial",,
238505,Combined immunodeficiency due to CD27 deficiency,C3554540,LYMPHOPROLIFERATIVE SYNDROME 2,,
238547,Acquired secondary polycythemia,C1318533,Secondary polycythemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
238557,Chuvash erythrocytosis,C1837915,"ERYTHROCYTOSIS, FAMILIAL, 2",,
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,C3150880,CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME,,
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,C0751435,Hyperphenylalaninaemia,,
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,C0751436,"Hyperphenylalaninemia, Non-Phenylketonuric",,
238624,Idiopathic intracranial hypertension,C0033845,Pseudotumor Cerebri,G00-G99,Diseases of the nervous system
238670,Isolated thyrotropin-releasing hormone deficiency,C0220998,Hypothalamic hypothyroidism,,
238670,Isolated thyrotropin-releasing hormone deficiency,C3887992,THYROTROPIN-RELEASING HORMONE DEFICIENCY,,
238769,1q44 microdeletion syndrome,C4304540,1q44 microdeletion syndrome,,
2388,Choreoacanthocytosis,C0393576,Chorea Acanthocytosis Syndrome,,
239,Dyggve-Melchior-Clausen disease,C0265286,Dyggve-Melchior-Clausen syndrome,,
2394,Pyruvate dehydrogenase E3 deficiency,C0268193,NADH cytochrome B5 reductase deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2396,Encephalocraniocutaneous lipomatosis,C0406612,Encephalocraniocutaneous lipomatosis,,
2398,Multiple symmetric lipomatosis,C0023804,"Lipomatosis, Multiple Symmetrical",,
24,Fumaric aciduria,C0342770,Fumarase deficiency,,
24,Fumaric aciduria,C2936826,Fumaric aciduria,,
240,Léri-Weill dyschondrosteosis,C0152441,Madelung Deformity,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
240,Léri-Weill dyschondrosteosis,C0265309,Leri-Weill dyschondrosteosis,,
240071,Classic progressive supranuclear palsy syndrome,C0038868,Progressive supranuclear palsy,G00-G99,Diseases of the nervous system
240085,Progressive supranuclear palsy-parkinsonism syndrome,C1850077,"Supranuclear Palsy, Progressive, 1, Atypical",,
2406,Locked-in syndrome,C0023944,Locked-In Syndrome,G00-G99,Diseases of the nervous system
2407,LOC syndrome,C1328355,Laryngoonychocutaneous syndrome,,
240760,Nijmegen breakage syndrome-like disorder,C2751318,Nijmegen Breakage Syndrome-Like Disorder,,
2414,Congenital pulmonary lymphangiectasia,C1849554,"LYMPHANGIECTASIA, PULMONARY, CONGENITAL",,
2415,Rare lymphatic malformation,C0024221,Lymphangioma,C00-D48,Neoplasms
2415,Rare lymphatic malformation,C0398368,Lymphatic Abnormalities,,
242,"46,XY complete gonadal dysgenesis",C0018054,"Gonadal Dysgenesis, 46,XY",,
242,"46,XY complete gonadal dysgenesis",C2748896,"46,Xy Gonadal Dysgenesis, Complete, Sry-Related",,
242,"46,XY complete gonadal dysgenesis",C2748897,"46,Xy True Hermaphroditism, Sry-Related",,
242,"46,XY complete gonadal dysgenesis",C2936694,Swyer Syndrome,,
243,"46,XX gonadal dysgenesis",C0685837,"Pure Gonadal Dysgenesis, 46, XX",,
243,"46,XX gonadal dysgenesis",C0949595,"Gonadal Dysgenesis, 46,XX",,
243343,Dimethylglycine dehydrogenase deficiency,C1853892,Dimethylglycine Dehydrogenase Deficiency,,
2439,Patterson-Stevenson-Fontaine syndrome,C1868114,"POLYDACTYLY, PREAXIAL II (disorder)",,
244,Primary ciliary dyskinesia,C0022521,Kartagener Syndrome,,
244,Primary ciliary dyskinesia,C4317124,Polynesian Bronchiectasis,,
2440,Isolated split hand-split foot malformation,C0265554,Ectrodactyly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2440,Isolated split hand-split foot malformation,C2931019,Split hand foot deformity 1,,
2442,X-linked lymphoproliferative disease,C0024314,Lymphoproliferative Disorders,C00-D48,Neoplasms
2442,X-linked lymphoproliferative disease,C0451697,Immunodeficiency following hereditary defective response to Epstein-Barr virus,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2442,X-linked lymphoproliferative disease,C0549463,X-Linked Lymphoproliferative Disorder,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
244242,HELLP syndrome,C0162739,HELLP Syndrome,,
244283,Biliary atresia with splenic malformation syndrome,C4274029,Biliary atresia with splenic malformation syndrome,,
244310,RFT1-CDG,C2677590,"Congenital Disorder Of Glycosylation, Type In",,
2444,Congenital pulmonary airway malformation,C0010668,"Cystic Adenomatoid Malformation of Lung, Congenital",,
245,Nager syndrome,C0265245,Nager syndrome,,
2451,Mucocutaneous venous malformations,C1838437,"VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL",,
2457,Mandibuloacral dysplasia,C0432291,Mandibuloacral dysostosis,,
246,Postaxial acrofacial dysostosis,C0265257,Genee-Wiedemann syndrome,,
2460,Van den Ende-Gupta syndrome,C1833136,Marden Walker like syndrome,,
2461,Marden-Walker syndrome,C0796033,MARDEN-WALKER SYNDROME,,
2462,Shprintzen-Goldberg syndrome,C1321551,Shprintzen-Goldberg syndrome,,
2466,MASA syndrome,C0795953,MASA SYNDROME (disorder),,
2467,Systemic mastocytosis,C0221013,"Mastocytosis, Systemic",C00-D48,Neoplasms
247,Arrhythmogenic right ventricular cardiomyopathy,C0349788,Arrhythmogenic Right Ventricular Dysplasia,,
2470,Matthew-Wood syndrome,C1832661,ANOPHTHALMIA AND PULMONARY HYPOPLASIA,,
2470,Matthew-Wood syndrome,C3540845,"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",,
247203,Collecting duct carcinoma,C0007134,Renal Cell Carcinoma,,
247203,Collecting duct carcinoma,C1266044,Collecting Duct Carcinoma of the Kidney,,
247257,Inhalational anthrax,C0155866,Inhalational anthrax,A00-B99,Certain infectious and parasitic diseases
247262,Hyperphosphatasia-intellectual disability syndrome,C1855923,Hyperphosphatasia with Mental Retardation,,
2473,McKusick-Kaufman syndrome,C0948368,Kaufman-McKusick syndrome,,
247353,Generalized pustular psoriasis,C0343055,Generalized pustular psoriasis,L00-L99,Diseases of the skin and subcutaneous tissue
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,C2749137,"Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",,
247525,Citrullinemia type I,C0175683,Citrullinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
247525,Citrullinemia type I,C0751751,"Argininosuccinic Acid Synthetase Deficiency, Complete",,
247582,Citrin deficiency,C1863844,Adult-onset citrullinemia type 2,,
247582,Citrin deficiency,C1997910,Citrin deficiency,,
247585,Citrullinemia type II,C1863844,Adult-onset citrullinemia type 2,,
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,C1853942,"CITRULLINEMIA, TYPE II, NEONATAL-ONSET",,
247604,Juvenile primary lateral sclerosis,C1853396,Primary lateral sclerosis juvenile,,
247623,Perinatal lethal hypophosphatasia,C2673477,"Hypophosphatasia, Perinatal Lethal",,
247651,Infantile hypophosphatasia,C0268412,Infantile hypophosphatasia,,
247651,Infantile hypophosphatasia,C2673477,"Hypophosphatasia, Perinatal Lethal",,
247667,Childhood-onset hypophosphatasia,C0220743,Childhood hypophosphatasia (disorder),,
247676,Adult hypophosphatasia,C0268413,Adult hypophosphatasia (disorder),,
247676,Adult hypophosphatasia,C1840322,ODONTOHYPOPHOSPHATASIA (disorder),,
247685,Odontohypophosphatasia,C1840322,ODONTOHYPOPHOSPHATASIA (disorder),,
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,C1860518,"Vasculopathy, Retinal, With Cerebral Leukodystrophy",,
247709,Multiple endocrine neoplasia type 2B,C0025269,Multiple Endocrine Neoplasia Type 2b,E00-E90,"Endocrine, nutritional and metabolic diseases"
247762,Lipoblastoma,C1260965,Lipoblastoma,,
247768,Müllerian aplasia and hyperandrogenism,C2675014,Mullerian Aplasia and Hyperandrogenism,,
247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,C1698581,Rokitansky Kuster Hauser syndrome,,
247790,FTH1-related iron overload,C1851316,"Iron Overload, Autosomal Dominant",,
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,C4310806,CATARACT 47,,
2478,Megalencephalic leukoencephalopathy with subcortical cysts,C1858854,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS,,
247820,Ectodermal dysplasia-syndactyly syndrome,C3150807,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1,,
247834,Occult macular dystrophy,C3150833,OCCULT MACULAR DYSTROPHY,,
247868,NLRP12-associated hereditary periodic fever syndrome,C2673198,Familial Cold Autoinflammatory Syndrome 2,,
248,Autosomal recessive hypohidrotic ectodermal dysplasia,C0406702,"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive",,
248095,Primary hypertrophic osteoarthropathy,C0029411,"Osteoarthropathy, Primary Hypertrophic",M00-M99,Diseases of the musculoskeletal system and connective tissue
2481,Neurocutaneous melanocytosis,C0544862,Neurocutaneous melanosis,,
248111,Juvenile Huntington disease,C0751208,Juvenile Huntington Disease,,
2484,Melnick-Needles syndrome,C0025237,Melnick-Needles Syndrome,,
2485,Melorheostosis,C0025239,Melorheostosis,,
2485,Melorheostosis,C3149631,"MELORHEOSTOSIS, ISOLATED",,
249,Fibrous dysplasia of bone,C0016063,Osteitis Fibrosa Disseminata,,
249,Fibrous dysplasia of bone,C0016065,Polyostotic fibrous dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2494,Ménétrier disease,C0017155,"Gastritis, Hypertrophic",K00-K93,Diseases of the digestive system
2495,Meningioma,C0025286,Meningioma,C00-D48,Neoplasms
2496,Mesomelia-synostoses syndrome,C1838162,Mesomelia-synostoses syndrome,,
2497,Upper limb mesomelic dysplasia,C1860614,ULNAR HYPOPLASIA,,
2499,Metachondromatosis,C0410530,Metachondromatosis,,
25,Glutaryl-CoA dehydrogenase deficiency,C0268595,"Glutaric aciduria, type 1",E00-E90,"Endocrine, nutritional and metabolic diseases"
250,Frontonasal dysplasia,C0432106,Midline facial cleft - Tessier cleft 0,,
250,Frontonasal dysplasia,C1876203,Frontonasal dysplasia,,
2501,"Metaphyseal chondrodysplasia, Spahr type",C0432225,Metaphyseal chondrodysplasia Spahr type,,
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,C3549874,METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY,,
2508,Corpus callosum agenesis-abnormal genitalia syndrome,C0796124,Proud Syndrome,,
250923,Isolated aniridia,C0003076,Aniridia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
250923,Isolated aniridia,C3805349,"CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY",,
250972,Polymicrogyria with optic nerve hypoplasia,C2750798,Polymicrogyria With Optic Nerve Hypoplasia,,
250977,AICA-ribosiduria,C1837530,AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency,,
250989,1q21.1 microdeletion syndrome,C2675897,"Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb",,
251,Multiple epiphyseal dysplasia,C0026760,Multiple Epiphyseal Dysplasia,,
2510,Micro syndrome,C1838625,Warburg Sjo Fledelius syndrome,,
251019,2q32q33 microdeletion syndrome,C2676739,Chromosome 2q32-Q33 Deletion Syndrome,,
251056,6q25 microdeletion syndrome,C3150215,CHROMOSOME 6q24-q25 DELETION SYNDROME,,
251066,8p11.2 deletion syndrome,C4304505,8p11.2 deletion syndrome,,
251071,8p23.1 microdeletion syndrome,C2931638,"Chromosome 8, monosomy 8p23 1",,
2512,Autosomal recessive primary microcephaly,C1855081,"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1",,
2512,Autosomal recessive primary microcephaly,C3711387,Autosomal Recessive Primary Microcephaly,,
251262,Familial osteochondritis dissecans,C3665488,Familial Osteochondritis Dissecans,,
251274,Familial hyperaldosteronism type III,C3150933,"HYPERALDOSTERONISM, FAMILIAL, TYPE III",,
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,C1970236,"Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",,
251282,Autosomal dominant spastic ataxia type 1,C1970107,"ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT",,
251287,Benign concentric annular macular dystrophy,C1828210,"Macular dystrophy, concentric annular",,
251290,Parietal foramina with clavicular hypoplasia,C1868597,Parietal Foramina With Cleidocranial Dysplasia,,
251295,Pigmented paravenous retinochoroidal atrophy,C1868310,Pigmented Paravenous Chorioretinal Atrophy,,
251347,Ataxia-telangiectasia-like disorder,C1858391,ATAXIA-TELANGIECTASIA-LIKE DISORDER,,
251347,Ataxia-telangiectasia-like disorder,C1859598,"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",,
251347,Ataxia-telangiectasia-like disorder,C4012790,Ataxia-Telangiectasisa-Like Disorder 1,,
251359,Sickle cell-beta-thalassemia disease syndrome,C0221019,Sickle cell-beta-thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
251359,Sickle cell-beta-thalassemia disease syndrome,C0857812,Sickle cell-beta^+^-thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
251365,Sickle cell-hemoglobin C disease syndrome,C0019034,Hemoglobin SC Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
251383,CK syndrome,C3151781,CK SYNDROME,,
251510,"46,XY partial gonadal dysgenesis",C4510744,"46,XY partial gonadal dysgenesis",,
251515,Distal arthrogryposis type 10,C1861238,"ARTHROGRYPOSIS, DISTAL, TYPE 10",,
251523,Hyperzincemia and hypercalprotectinemia,C1860229,Hyperzincemia and Hypercalprotectinemia,,
251576,Gliosarcoma,C0206726,gliosarcoma,,
251579,Giant cell glioblastoma,C0334588,Giant Cell Glioblastoma,,
251582,Gliomatosis cerebri,C0334576,Gliomatosis cerebri,,
251589,Anaplastic astrocytoma,C0334579,Anaplastic astrocytoma,,
251595,Diffuse astrocytoma,C0280785,Diffuse Astrocytoma,,
251598,Protoplasmic astrocytoma,C0334580,Protoplasmic astrocytoma,,
251607,Pleomorphic xanthoastrocytoma,C0334586,Pleomorphic Xanthoastrocytoma,,
251612,Pilocytic astrocytoma,C0334583,Pilocytic Astrocytoma,,
251627,Oligodendroglioma,C0028945,oligodendroglioma,,
251627,Oligodendroglioma,C0751396,Well Differentiated Oligodendroglioma,,
251630,Anaplastic oligodendroglioma,C0334590,Anaplastic Oligodendroglioma,,
251636,Ependymoma,C0014474,Ependymoma,,
251639,Subependymoma,C0206725,Subependymal Glioma,,
251643,Myxopapillary ependymoma,C0205769,Myxopapillary ependymoma,,
251646,Anaplastic ependymoma,C0280788,Anaplastic Ependymoma,,
251651,Oligoastrocytic tumor,C0280793,Mixed Oligodendroglioma-Astrocytoma,,
251671,Angiocentric glioma,C2363903,Angiocentric glioma,,
251863,Desmoplastic/nodular medulloblastoma,C0751291,Desmoplastic Medulloblastoma,,
251870,Central nervous system embryonal tumor,C0206093,Neuroectodermal Tumors,,
251870,Central nervous system embryonal tumor,C0206663,"Neuroectodermal Tumor, Primitive",,
251883,Medulloepithelioma of the central nervous system,C0334596,Medulloepithelioma,,
251896,Choroid plexus tumor,C0085138,Choroid Plexus Neoplasms,,
251899,Choroid plexus carcinoma,C0431109,Choroid Plexus Carcinoma,,
251909,Pineoblastoma,C0205898,pineoblastoma,,
252164,Benign schwannoma,C0027809,Neurilemmoma,,
252164,Benign schwannoma,C0854906,Benign Schwannoma,,
252175,Vestibular schwannoma,C0027859,Acoustic Neuroma,,
252212,Malignant triton tumor,C0334616,Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation,,
2524,Pontocerebellar hypoplasia type 2,C2932714,Pontocerebellar Hypoplasia Type 2,,
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,C1835265,"Lymphedema, microcephaly and chorioretinopathy syndrome",,
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,C3501946,"Microcephaly with Chorioretinopathy, Autosomal Dominant",,
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,C0038015,Spondyloepiphyseal Dysplasia,,
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,C2745959,"Spondyloepiphyseal dysplasia, congenita",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
254,Spondylometaphyseal dysplasia,C0700635,Strudwick syndrome,,
2542,Isolated microphthalmia-anophthalmia-coloboma,C1855052,"MICROPHTHALMIA, ISOLATED 1",,
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,C3150897,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",,
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,C3150925,"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE",,
254361,Plectin-related  limb-girdle muscular dystrophy R17,C3150989,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",,
254367,Rare lichen planus,C0023646,Lichen Planus,L00-L99,Diseases of the skin and subcutaneous tissue
254478,Lichen planus pemphigoides,C0406369,Lichen planus pemphigoides,,
254516,Temple syndrome,C4015558,TEMPLE SYNDROME,,
254519,Kagami-Ogata syndrome,C1842466,"Uniparental disomy, paternal, chromosome 14",,
254688,Complete hydatidiform mole,C0020217,Hydatidiform Mole,O00-O099,"Pregnancy, childbirth and the puerperium"
254688,Complete hydatidiform mole,C0678213,Complete hydatidiform mole,O00-O099,"Pregnancy, childbirth and the puerperium"
254693,Partial hydatidiform mole,C0334529,"Hydatidiform Mole, Partial",O00-O099,"Pregnancy, childbirth and the puerperium"
254875,"Mitochondrial DNA depletion syndrome, myopathic form",C3149750,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE),,
254875,"Mitochondrial DNA depletion syndrome, myopathic form",C3501891,"Mitochondrial DNA Depletion Syndrome, Myopathic Form",,
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,C3553354,"COENZYME Q10 DEFICIENCY, PRIMARY, 2",,
254920,Combined oxidative phosphorylation defect type 2,C1864843,Combined Oxidative Phosphorylation Deficiency 2,,
254925,Combined oxidative phosphorylation defect type 4,C1857682,Combined Oxidative Phosphorylation Deficiency 4,,
254930,Combined oxidative phosphorylation defect type 7,C3150801,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7,,
255,Dopa-responsive dystonia,C1851920,Dopa-Responsive Dystonia,,
255132,Adult-onset autosomal recessive sideroblastic anemia,C2673914,"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",,
255132,Adult-onset autosomal recessive sideroblastic anemia,C4225155,"ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",,
255138,Pyruvate dehydrogenase E1-beta deficiency,C3279841,Pyruvate Dehydrogenase E1-Beta Deficiency,,
255182,Pyruvate dehydrogenase E3-binding protein deficiency,C1855553,Pyruvate Dehydrogenase E3-Binding Protein Deficiency,,
255229,Navajo neurohepatopathy,C1850406,NAVAJO NEUROHEPATOPATHY,,
255229,Navajo neurohepatopathy,C1850407,Navajo Familial Neurogenic Arthropathy,,
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",C2749861,MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY),,
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",C3150172,MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE),,
2554,Ear-patella-short stature syndrome,C1868684,"EAR, PATELLA, SHORT STATURE SYNDROME",,
2556,Microphthalmia with linear skin defects syndrome,C0796070,"MICROPHTHALMIA, SYNDROMIC 7",,
256,Early-onset generalized limb-onset dystonia,C0013423,Dystonia Musculorum Deformans,G00-G99,Diseases of the nervous system
256,Early-onset generalized limb-onset dystonia,C0393598,Idiopathic familial dystonia,G00-G99,Diseases of the nervous system
256,Early-onset generalized limb-onset dystonia,C1851945,"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",,
256,Early-onset generalized limb-onset dystonia,C3888090,Early onset torsion dystonia,,
2566,Chronic Epstein-Barr virus infection syndrome,C4016741,IMMUNODEFICIENCY 32B,,
257,Epidermolysis bullosa simplex with muscular dystrophy,C2931072,Epidermolysa bullosa simplex and limb girdle muscular dystrophy,,
2573,Moyamoya disease,C0026654,Moyamoya Disease,I00-I99,Diseases of the circulatory system
2573,Moyamoya disease,C2931384,Moyamoya disease 1,,
2576,Mulibrey nanism,C0524582,Mulibrey Nanism,,
2576,Mulibrey nanism,C2931895,Pericardial constriction with growth failure,,
258,Laminin subunit alpha 2-related congenital muscular dystrophy,C1263858,"Muscular dystrophy congenital, merosin negative",,
258,Laminin subunit alpha 2-related congenital muscular dystrophy,C1842898,"Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",,
2582,Myalgia-eosinophilia syndrome associated with tryptophan,C0085179,Eosinophilia-Myalgia Syndrome,,
2583,Mycetoma,C0024449,Mycetoma,A00-B99,Certain infectious and parasitic diseases
2584,Classic mycosis fungoides,C0026948,Mycosis Fungoides,C00-D48,Neoplasms
2588,Myhre syndrome,C0796081,Myhre syndrome,,
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,C1834569,Jankovic Rivera syndrome,,
2591,Infantile myofibromatosis,C0432284,Infantile myofibromatosis,,
25968,Benign occipital epilepsy,C1851549,Benign Occipital Epilepsy,,
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,C1855033,Mitochondrial myopathy with lactic acidosis,,
2598,Mitochondrial myopathy and sideroblastic anemia,C1838103,MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA,,
25980,X-linked myopathy with excessive autophagy,C1839615,X-linked myopathy with excessive autophagy,,
25980,X-linked myopathy with excessive autophagy,C2931230,Vacuolar myopathy,,
26,Methylmalonic acidemia with homocystinuria,C1848561,Methylmalonic acidemia with homocystinuria,,
2604,Familial visceral myopathy,C0266833,"Visceral Myopathy, Familial",,
2604,Familial visceral myopathy,C1835084,Megaduodenum and-or Megacystis,,
2609,Isolated complex I deficiency,C1838979,MITOCHONDRIAL COMPLEX I DEFICIENCY,,
261,Emery-Dreifuss muscular dystrophy,C0410189,"Muscular Dystrophy, Emery-Dreifuss",,
26106,Hereditary diffuse gastric cancer,C1708349,Hereditary Diffuse Gastric Cancer,,
26106,Hereditary diffuse gastric cancer,C3549742,"Breast cancer, lobular",,
261144,14q12 microdeletion syndrome,C4305240,14q12 microdeletion syndrome,,
261190,15q14 microdeletion syndrome,C4225666,CHROMOSOME 15q14 DELETION SYNDROME,,
261197,Proximal 16p11.2 microdeletion syndrome,C3150154,"CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",,
261197,Proximal 16p11.2 microdeletion syndrome,C3552491,"AUTISM, SUSCEPTIBILITY TO, 14A",,
2612,Linear nevus sebaceus syndrome,C0265329,Organoid Nevus Phakomatosis,,
2612,Linear nevus sebaceus syndrome,C3854181,Nevus sebaceous,,
261222,Distal 16p11.2 microdeletion syndrome,C1866432,"OBESITY, SUSCEPTIBILITY TO",,
261222,Distal 16p11.2 microdeletion syndrome,C3150701,"CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",,
261222,Distal 16p11.2 microdeletion syndrome,C3150702,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16,,
261250,16q24.3 microdeletion syndrome,C4304594,16q24.3 microdeletion syndrome,,
261265,17q12 microdeletion syndrome,C3281138,CHROMOSOME 17q12 DELETION SYNDROME,,
261279,17q23.1q23.2 microdeletion syndrome,C3150607,CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME,,
261290,Trisomy 17p,C0795865,"Chromosome 17, trisomy 17p",,
261295,20p12.3 microdeletion syndrome,C4304539,20p12.3 microdeletion syndrome,,
2613,Nail-patella-like renal disease,C0403548,Salcedo syndrome,,
261330,Distal 22q11.2 microdeletion syndrome,C2678480,"Chromosome 22q11.2 Deletion Syndrome, Distal",,
2614,Nail-patella syndrome,C0027341,Nail-Patella Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
261476,Xp21 microdeletion syndrome,C0795887,Complex Glycerol Kinase Deficiency,,
261483,Xq27.3q28 duplication syndrome,C3275521,CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME,,
261494,Kleefstra syndrome,C0795833,Kleefstra Syndrome,,
2616,3M syndrome,C1848862,Miller-McKusick-Malvaux-Syndrome (3M Syndrome),,
2616,3M syndrome,C1851996,Dwarfism tall vertebrae,,
2616,3M syndrome,C2678312,Three M Syndrome 1,,
262,Duchenne and Becker muscular dystrophy,C0917713,Becker Muscular Dystrophy,,
262,Duchenne and Becker muscular dystrophy,C3542021,Duchenne and Becker Muscular Dystrophy,,
2623,Geleophysic dysplasia,C3489726,Geleophysic dysplasia,,
263,Limb-girdle muscular dystrophy,C0686353,"Muscular Dystrophies, Limb-Girdle",G00-G99,Diseases of the nervous system
2632,Langer mesomelic dysplasia,C0432230,Langer Mesomelic Dysplasia Syndrome,,
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,C3150754,GLYCOGEN STORAGE DISEASE XV,,
263310,Thymoma type A,C1266091,"Thymoma, type A",,
263347,MRCS syndrome,C2674009,"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",,
263413,Angiosarcoma,C0018923,Hemangiosarcoma,,
263425,Nevus of Ota,C0027961,Nevus of Ota,,
263432,Nevus of Ito,C0022283,Incontinentia Pigmenti Achromians,,
263440,Neuroacanthocytosis,C0393576,Chorea Acanthocytosis Syndrome,,
263455,Hyperinsulinism due to HNF4A deficiency,C4274078,Hyperinsulinism due to HNF4A deficiency,,
263458,Hyperinsulinism due to INSR deficiency,C1864952,"Hyperinsulinemic Hypoglycemia, Familial, 5",,
263463,CHST3-related skeletal dysplasia,C1837657,"Spondyloepiphyseal dysplasia, Omani type",,
263463,CHST3-related skeletal dysplasia,C2931649,"Larsen syndrome, recessive type",,
263479,Fuchs heterochromic iridocyclitis,C0016782,Fuchs\' heterochromic cyclitis,H00-H59,Diseases of the eye and adnexa
263482,"Spondyloepiphyseal dysplasia, Maroteaux type",C3159322,"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",,
263487,COG5-CDG,C3150876,COG5 congenital disorder of glycosylation,,
263494,DPM3-CDG,C2752007,"Congenital Disorder of Glycosylation, Type Io",,
2635,Metatropic dysplasia,C0265281,Metatropic dwarfism,,
263501,COG4-CDG,C3150736,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj",,
263508,COG1-CDG,C2931011,"Congenital disorder of glycosylation, type 2G",,
263516,Progressive myoclonic epilepsy type 3,C2673257,"EPILEPSY, PROGRESSIVE MYOCLONIC 3",,
263534,Acral peeling skin syndrome,C1853354,"Peeling skin syndrome, acral type",,
263543,Generalized peeling skin syndrome,C1849193,PEELING SKIN SYNDROME,,
263548,Peeling skin syndrome type A,C4015729,PEELING SKIN SYNDROME 3,,
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,C4319565,Microcephalic osteodysplastic primordial dwarfism types I and III,,
2637,Microcephalic osteodysplastic primordial dwarfism type II,C0432246,"Microcephalic Osteodysplastic Primordial Dwarfism, Type II",,
264200,14q22q23 microdeletion syndrome,C1864825,Frias syndrome,,
2645,Osteoglosphonic dysplasia,C0432283,Osteoglophonic dwarfism,,
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,C2751643,Glycogen Storage Disease IXC,,
2646,Parastremmatic dwarfism,C1868616,Parastremmatic dwarfism,,
264675,Hereditary pulmonary alveolar proteinosis,C2931035,"Pulmonary alveolar proteinosis, congenital",,
264688,Congenital chylothorax,C0340014,"Chylothorax, congenital",,
2655,Thanatophoric dysplasia,C0039743,Thanatophoric Dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2658,Lenz-Majewski hyperostotic dwarfism,C0432269,Lenz Majewski hyperostotic dwarfism,,
267,Calpain-3-related  limb-girdle muscular dystrophy R1,C1299884,Eosinophilic myositis (disorder),,
267,Calpain-3-related  limb-girdle muscular dystrophy R1,C1869123,Limb-girdle muscular dystrophy type 2A,,
2670,Pierson syndrome,C1836876,Pierson syndrome,,
2671,Neu-Laxova syndrome,C0265218,Neu-Laxova syndrome,,
2678,Neurofibromatosis type 6,C0221263,Cafe-au-Lait Spots,L00-L99,Diseases of the skin and subcutaneous tissue
2678,Neurofibromatosis type 6,C1861975,"Cafe au lait spots, multiple",,
26790,Pseudomyxoma peritonei,C0033822,Pseudomyxoma Peritonei,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C0268596,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
26791,Multiple acyl-CoA dehydrogenase deficiency,C1856401,Glutaric Aciduria IIA,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C1856403,Glutaric Aciduria IIB,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C1856405,Glutaric Aciduria IIC,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C3278154,GLUTARIC ACIDEMIA IIA,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C3278155,GLUTARIC ACIDEMIA IIB,,
26791,Multiple acyl-CoA dehydrogenase deficiency,C3278156,GLUTARIC ACIDEMIA IIC,,
26792,Short chain acyl-CoA dehydrogenase deficiency,C0342783,Deficiency of butyryl-CoA dehydrogenase,E00-E90,"Endocrine, nutritional and metabolic diseases"
26793,Very long chain acyl-CoA dehydrogenase deficiency,C3887523,Very long chain acyl-CoA dehydrogenase deficiency,,
268,Dysferlin-related  limb-girdle muscular dystrophy R2,C1850889,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",,
268114,RAS-associated autoimmune leukoproliferative disease,C2674723,RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER,,
268129,Spheroid body myopathy,C1866785,Spheroid body myopathy,,
268145,Classic maple syrup urine disease,C0268568,Classic Maple Syrup Urine Disease,,
268162,Intermediate maple syrup urine disease,C1621920,Intermediate Maple Syrup Urine Disease,,
268173,Intermittent maple syrup urine disease,C0268569,Intermittent Maple Syrup Urine Disease,,
268184,Thiamine-responsive maple syrup urine disease,C0751285,"Maple Syrup Urine Disease, Thiamine Responsive",,
268369,Spina bifida aperta,C0037917,Spina Bifida Cystica,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2686,Cyclic neutropenia,C0221023,Cyclic neutropenia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
268744,Spina bifida cystica,C0037917,Spina Bifida Cystica,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
268813,Myelocystocele,C0025312,Meningomyelocele,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
268817,Cephalocele,C0014065,Congenital cerebral hernia,,
268823,Occipital encephalocele,C0014067,Occipital Encephalocele,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
268865,Neurenteric cyst,C0027806,Neurenteric Cyst,,
268882,Arnold-Chiari malformation type I,C0750929,"Arnold-Chiari Malformation, Type I",,
268920,Isolated megalencephaly,C0221355,Macrocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
268936,Isolated arhinencephaly,C0078982,Arhinencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
268943,Unilateral polymicrogyria,C4024960,Unilateral polymicrogyria,,
268950,Cerebral cortical dysplasia,C0431380,Cortical Dysplasia,,
268994,Isolated focal cortical dysplasia type II,C1846385,FOCAL CORTICAL DYSPLASIA OF TAYLOR,,
268994,Isolated focal cortical dysplasia type II,C1846389,"Focal Cortical Dysplasia of Taylor, Type IIb",,
268994,Isolated focal cortical dysplasia type II,C4478700,"FOCAL CORTICAL DYSPLASIA, TYPE IIA",,
268994,Isolated focal cortical dysplasia type II,C4478701,"FOCAL CORTICAL DYSPLASIA, TYPE IIB",,
268994,Isolated focal cortical dysplasia type II,C4479708,FCD IIA,,
268994,Isolated focal cortical dysplasia type II,C4479709,FCD IIB,,
269,Facioscapulohumeral dystrophy,C0238288,"Muscular Dystrophy, Facioscapulohumeral",G00-G99,Diseases of the nervous system
2695,Bifid nose,C0221363,Bifid nose,,
269510,Congenital non-communicating hydrocephalus,C1531647,Cerebral ventriculomegaly,,
269510,Congenital non-communicating hydrocephalus,C3887608,"HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1",,
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,C1859722,Arthrogryposis renal dysfunction cholestasis syndrome,,
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,C0266004,"Knuckle pads, leuconychia and sensorineural deafness",,
27,Vitamin B12-unresponsive methylmalonic acidemia,C1855114,Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency,,
27,Vitamin B12-unresponsive methylmalonic acidemia,C1855115,"Methylmalonic Aciduria, mut(0) Type",,
27,Vitamin B12-unresponsive methylmalonic acidemia,C1855116,"Methylmalonic Aciduria, mut(-) Type",,
270,Oculopharyngeal muscular dystrophy,C0270952,"Muscular Dystrophy, Oculopharyngeal",G00-G99,Diseases of the nervous system
2701,Noonan syndrome-like disorder with loose anagen hair,C1843181,Noonan syndrome-like disorder with loose anagen hair,,
2701,Noonan syndrome-like disorder with loose anagen hair,C3501846,Noonan-Like Syndrome With Loose Anagen Hair,,
2701,Noonan syndrome-like disorder with loose anagen hair,C4478716,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1,,
2701,Noonan syndrome-like disorder with loose anagen hair,C4479577,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2,,
2704,Ochoa syndrome,C0403555,Ochoa syndrome,,
2707,"Oculocerebrofacial syndrome, Kaufman type",C1855663,Kaufman oculocerebrofacial syndrome,,
2710,Oculodentodigital dysplasia,C0812437,Oculo-dento-digital syndrome,,
2712,Oculofaciocardiodental syndrome,C1846265,"Microphthalmia, syndromic 2",,
2717,Oculotrichoanal syndrome,C1855425,Marles Greenberg Persaud syndrome,,
272,"Congenital muscular dystrophy, Fukuyama type",C0410174,Fukuyama Type Congenital Muscular Dystrophy,,
2721,Odonto-onycho-dermal dysplasia,C0796093,Odontoonychodermal dysplasia,,
2721,Odonto-onycho-dermal dysplasia,C1275074,Odonto-onycho-dermal dysplasia,,
2723,Odontotrichomelic syndrome,C0406723,"Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy",,
2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",C0796094,Blepharophimosis syndrome Ohdo type,,
273,Steinert myotonic dystrophy,C3250443,MYOTONIC DYSTROPHY 1,,
2737,Onchocerciasis,C0029001,Onchocerciasis,A00-B99,Certain infectious and parasitic diseases
2737,Onchocerciasis,C0029002,"Onchocerciasis, Ocular",A00-B99,Certain infectious and parasitic diseases
274,Bernard-Soulier syndrome,C0005129,Bernard-Soulier Syndrome,,
274,Bernard-Soulier syndrome,C1856447,"Bernard-Soulier Syndrome, Type B",,
274,Bernard-Soulier syndrome,C1856448,"Bernard-Soulier Syndrome, Type C",,
274,Bernard-Soulier syndrome,C2713537,Deficiency of Platelet Glycoprotein 1b,,
274,Bernard-Soulier syndrome,C3278148,"BERNARD-SOULIER SYNDROME, TYPE A1",,
2744,Horizontal gaze palsy with progressive scoliosis,C1846496,"Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",,
2745,Opitz G/BBB syndrome,C1801950,"Opitz-G syndrome, type 2",,
2745,Opitz G/BBB syndrome,C2936904,"Opitz GBBB Syndrome, X-Linked",,
2746,Opsismodysplasia,C0432219,Opsismodysplasia,,
275,Severe combined immunodeficiency due to DCLRE1C deficiency,C1865372,Athabaskan severe combined immunodeficiency,,
2750,Orofaciodigital syndrome type 1,C1510460,Orofaciodigital Syndrome I,,
2750,Orofaciodigital syndrome type 1,C2931426,Orofaciodigital syndrome type1,,
2751,Orofaciodigital syndrome type 2,C0026363,Mohr Syndrome,,
2751,Orofaciodigital syndrome type 2,C2931889,"Oral-facial-digital syndrome, type 2",,
2752,Orofaciodigital syndrome type 3,C0406726,Orofaciodigital syndrome 3,,
2753,Orofaciodigital syndrome type 4,C0406727,Orofaciodigital syndrome 4,,
2754,Orofaciodigital syndrome type 6,C2745997,OROFACIODIGITAL SYNDROME VI,,
2755,Orofaciodigital syndrome type 8,C0152096,Complete trisomy 18 syndrome,,
275517,Autoimmune lymphoproliferative syndrome with recurrent viral infections,C1846545,Autoimmune Lymphoproliferative Syndrome Type 2B,,
275523,Dianzani autoimmune lymphoproliferative disease,C2931071,Dianzani autoimmune lymphoproliferative syndrome,,
275534,Myostatin-related muscle hypertrophy,C0236033,Muscle hypertrophy,,
275534,Myostatin-related muscle hypertrophy,C2931112,Myostatin-related muscle hypertrophy,,
275543,L1 syndrome,C0795953,MASA SYNDROME (disorder),,
275555,Preeclampsia,C0032914,Pre-Eclampsia,,
275555,Preeclampsia,C0162739,HELLP Syndrome,,
275555,Preeclampsia,C0852036,Pregnancy associated hypertension,,
275761,Lysosomal acid lipase deficiency,C0043208,Wolman Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
275761,Lysosomal acid lipase deficiency,C2936797,"Acid cholesteryl ester hydrolase deficiency, type 2",,
275766,Idiopathic pulmonary arterial hypertension,C0152171,Idiopathic pulmonary hypertension,I00-I99,Diseases of the circulatory system
275766,Idiopathic pulmonary arterial hypertension,C3203102,Idiopathic pulmonary arterial hypertension,I00-I99,Diseases of the circulatory system
275777,Heritable pulmonary arterial hypertension,C0340543,Familial primary pulmonary hypertension,I00-I99,Diseases of the circulatory system
275777,Heritable pulmonary arterial hypertension,C1701939,Familial pulmonary arterial hypertension,,
275786,Drug- or toxin-induced pulmonary arterial hypertension,C0340544,Pulmonary arterial hypertension induced by drug,,
275798,Pulmonary arterial hypertension associated with connective tissue disease,C3697982,Pulmonary arterial hypertension associated with connective tissue disease,,
275803,Pulmonary arterial hypertension associated with congenital heart disease,C3697119,Pulmonary arterial hypertension associated with congenital heart disease,,
275813,Pulmonary arterial hypertension associated with portal hypertension,C1868851,Pulmonary arterial hypertension associated with portal hypertension,,
275864,Behavioral variant of frontotemporal dementia,C4011788,Behavioral variant of frontotemporal dementia,,
275872,Frontotemporal dementia with motor neuron disease,C3888102,Frontotemporal Dementia With Motor Neuron Disease,,
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,C1279481,X-Linked Combined Immunodeficiency Diseases,,
276152,Multiple endocrine neoplasia type 4,C1970712,"Multiple Endocrine Neoplasia, Type IV",,
276161,Multiple endocrine neoplasia,C0027662,Multiple Endocrine Neoplasia,E00-E90,"Endocrine, nutritional and metabolic diseases"
276183,Spinocerebellar ataxia type 32,C3151343,SPINOCEREBELLAR ATAXIA 32,,
276193,Spinocerebellar ataxia type 35,C3888031,SPINOCEREBELLAR ATAXIA 35,,
276198,Spinocerebellar ataxia type 36,C3472711,Spinocerebellar ataxia 36,,
276238,Machado-Joseph disease type 1,C0751668,Machado-Joseph Disease Type I,,
276241,Machado-Joseph disease type 2,C0751669,Machado-Joseph Disease Type II,,
276244,Machado-Joseph disease type 3,C0751670,Machado-Joseph Disease Type III,,
2763,Osteocraniostenosis,C1865639,Gracile bone dysplasia,,
276399,Familial multinodular goiter,C0302859,Euthyroid Goiter,,
2764,Osteochondritis dissecans,C0029421,Osteochondritis Dissecans,M00-M99,Diseases of the musculoskeletal system and connective tissue
276405,Hyperbiliverdinemia,C3279964,HYPERBILIVERDINEMIA,,
276413,10q22.3q23.3 microdeletion syndrome,C0345893,Juvenile polyposis syndrome,,
276432,Ogden syndrome,C3275447,OGDEN SYNDROME,,
276435,Lower motor neuron syndrome with late-adult onset,C3554398,"SPINAL MUSCULAR ATROPHY, JOKELA TYPE",,
276556,Hyperinsulinism due to UCP2 deficiency,C4303082,Hyperinsulinism due to uncoupling protein 2 deficiency,,
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,C4274080,Autosomal dominant hyperinsulinism due to SUR1 deficiency,,
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,C4274081,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,,
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,C0268124,Adenosine deaminase deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,C0392607,Severe combined immunodeficiency due to adenosine deaminase deficiency,,
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,C1863236,"SCID Due to ADA Deficiency, Early-Onset",,
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,C1863239,Partial adenosine deaminase deficiency,,
2770,Nasu-Hakola disease,C1857316,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY,,
2771,Bruck syndrome,C0432253,Bruck syndrome,,
2771,Bruck syndrome,C1836602,Bruck syndrome 2,,
2771,Bruck syndrome,C1850168,Bruck syndrome 1,,
2771,Bruck syndrome,C1859709,Kuskokwim disease,,
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,C2674705,"Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",,
2780,Osteopathia striata-cranial sclerosis syndrome,C0432268,Osteopathia striata cranial sclerosis,,
2781,Osteopetrosis and related disorders,C0029454,Osteopetrosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2783,Autosomal dominant osteopetrosis type 1,C1843330,"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",,
2785,Osteopetrosis with renal tubular acidosis,C0345407,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",,
2785,Osteopetrosis with renal tubular acidosis,C1849435,"Renal tubular acidosis, distal, type 3",,
2788,Osteoporosis-pseudoglioma syndrome,C0432252,Osteoporosis with pseudoglioma,,
2789,Lateral meningocele syndrome,C0344487,Lateral meningocele,,
2789,Lateral meningocele syndrome,C1851710,LATERAL MENINGOCELE SYNDROME,,
2790,"Endosteal hyperostosis, Worth type",C0432273,Worth disease,,
2791,Otodental syndrome,C1833693,Otodental Dysplasia,,
2791,Otodental syndrome,C2750325,Oculootodental Syndrome,,
2796,Pachydermoperiostosis,C0029411,"Osteoarthropathy, Primary Hypertrophic",M00-M99,Diseases of the musculoskeletal system and connective tissue
2796,Pachydermoperiostosis,C2678439,CRANIOOSTEOARTHROPATHY,,
279882,Spasmus nutans,C1527306,spasmus nutans,,
279904,Primary intraocular lymphoma,C0281658,Intraocular Lymphoma,,
279914,Intermediate uveitis,C0042166,"Uveitis, Intermediate",,
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",C3151513,MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE),,
279943,Hereditary neutrophilia,C0543669,"Neutrophilia, Hereditary",,
28,Vitamin B12-responsive methylmalonic acidemia,C0342720,Adenosylcobalamin synthesis defect,,
280,Wolf-Hirschhorn syndrome,C0796117,Pitt-Rogers-Danks Syndrome,,
280,Wolf-Hirschhorn syndrome,C0796202,Wittwer syndrome,,
280,Wolf-Hirschhorn syndrome,C1956097,Wolf-Hirschhorn Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2800,Extramammary Paget disease,C0030186,Paget Disease Extramammary,,
280071,ALG11-CDG,C3150913,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip",,
2801,Juvenile Paget disease,C0268414,Hyperphosphatasemia with bone disease,,
280133,Complement component 3 deficiency,C3151071,"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",,
280142,Severe combined immunodeficiency due to LCK deficiency,C4014233,IMMUNODEFICIENCY 22,,
280183,Methylmalonic aciduria due to transcobalamin receptor defect,C3150900,"METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT",,
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,C1845028,"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA",,
280219,"Pelizaeus-Merzbacher disease, classic form",C0751916,Classic Pelizaeus-Merzbacher Disease,,
280224,"Pelizaeus-Merzbacher disease, transitional form",C0751917,"Pelizaeus-Merzbacher Disease, Transitional",,
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,C1837355,"Leukodystrophy, Hypomyelinating, 2",,
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,C2677109,"Leukodystrophy, Hypomyelinating, 4",,
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,C1850053,"Pelizaeus-Merzbacher-like disease, autosomal recessive, 2",,
280302,Autoimmune pancreatitis type 1,C4302243,Autoimmune pancreatitis type 1,,
280333,Alpha-dystroglycan-related  limb-girdle muscular dystrophy R16,C3151184,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",,
280356,PLIN1-related familial partial lipodystrophy,C3151268,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4",,
280397,Familial Alzheimer-like prion disease,C4303482,Familial Alzheimer-like prion disease,,
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,C3553349,"COENZYME Q10 DEFICIENCY, PRIMARY, 6",,
2805,Partial pancreatic agenesis,C1850096,"Pancreatic Agenesis, Congenital",,
280553,Fatal infantile hypertonic myofibrillar myopathy,C3151236,"MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",,
280558,Warsaw breakage syndrome,C3150658,WARSAW BREAKAGE SYNDROME,,
280576,Nestor-Guillermo progeria syndrome,C3151446,NESTOR-GUILLERMO PROGERIA SYNDROME,,
280586,"Chondrodysplasia with joint dislocations, gPAPP type",C3279757,"CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE",,
2806,Subacute sclerosing leukoencephalitis,C0038522,Subacute Sclerosing Panencephalitis,A00-B99,Certain infectious and parasitic diseases
280620,Progressive myoclonic epilepsy type 6,C3279627,"EPILEPSY, PROGRESSIVE MYOCLONIC, 6",,
280628,Familial progressive hyper- and hypopigmentation,C1840392,"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",,
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,C3279775,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1,,
280640,Occipital pachygyria and polymicrogyria,C3279875,"CORTICAL MALFORMATIONS, OCCIPITAL",,
280654,Autosomal recessive nail dysplasia,C3279974,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",,
280663,Hermansky-Pudlak syndrome type 9,C3280026,HERMANSKY-PUDLAK SYNDROME 9,,
280671,Megaconial congenital muscular dystrophy,C1865233,"Muscular Dystrophy, Congenital, Megaconial Type",,
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,C3151857,"MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM",,
280886,Anterior uveitis,C0022073,Iridocyclitis,H00-H59,Diseases of the eye and adnexa
280886,Anterior uveitis,C0042165,Anterior uveitis,,
280892,Posterior uveitis,C0008526,Choroiditis,H00-H59,Diseases of the eye and adnexa
280892,Posterior uveitis,C0042167,"Uveitis, Posterior",,
280898,Panuveitis,C0030343,Panuveitis,H00-H59,Diseases of the eye and adnexa
281,Monosomy 5p,C0010314,Cri-du-Chat Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
281,Monosomy 5p,C2931860,Monosomy 5p,,
281090,Syndromic recessive X-linked ichthyosis,C4274085,Syndromic recessive X-linked ichthyosis,,
281122,Self-improving collodion baby,C1855789,Self-Healing Collodion Baby,,
281127,Acral self-healing collodion baby,C4305324,Acral self-healing collodion baby,,
281139,Annular epidermolytic ichthyosis,C1843463,"Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",,
281190,Congenital reticular ichthyosiform erythroderma,C1836681,"Erythrokeratoderma, Reticular",,
281190,Congenital reticular ichthyosiform erythroderma,C3665704,Congenital reticular ichthyosiform erythroderma,,
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,C1866029,Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma,,
282,Frontotemporal dementia,C0338451,Frontotemporal dementia,G00-G99,Diseases of the nervous system
282,Frontotemporal dementia,C0520716,Pallidopontonigral degeneration,,
282,Frontotemporal dementia,C1838313,Pick Complex,,
282166,Inherited Creutzfeldt-Jakob disease,C0022336,Creutzfeldt-Jakob disease,A00-B99,Certain infectious and parasitic diseases
282166,Inherited Creutzfeldt-Jakob disease,C0376329,New Variant Creutzfeldt-Jakob Disease,A00-B99,Certain infectious and parasitic diseases
282166,Inherited Creutzfeldt-Jakob disease,C0751254,"Creutzfeldt-Jakob Disease, Familial",A00-B99,Certain infectious and parasitic diseases
282166,Inherited Creutzfeldt-Jakob disease,C1852467,"Creutzfeldt-Jakob Disease, Sporadic",A00-B99,Certain infectious and parasitic diseases
282166,Inherited Creutzfeldt-Jakob disease,C1969957,"Creutzfeldt-Jakob Disease, Heidenhain Variant",,
2822,Autosomal recessive spastic paraplegia type 11,C1858479,"Spastic paraplegia 11, autosomal recessive",,
2822,Autosomal recessive spastic paraplegia type 11,C2931821,Nakamura Osame syndrome,,
2833,Stiff skin syndrome,C1861456,Stiff Skin Syndrome,,
2834,Wrinkly skin syndrome,C0406587,Wrinkly skin syndrome,,
2836,PEHO syndrome,C1850055,PEHO syndrome,,
28378,Tyrosinemia type 2,C0268487,Tyrosine Transaminase Deficiency Disease,,
2841,Familial benign chronic pemphigus,C0085106,Familial benign pemphigus,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
284139,"Larsen-like syndrome, B3GAT3 type",C3278404,"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS",,
284149,Craniosynostosis-dental anomalies,C3280073,CRANIOSYNOSTOSIS AND DENTAL ANOMALIES,,
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,C3280220,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",,
284247,Familial retinal arterial macroaneurysm,C3280205,RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS,,
284264,IgG4-related disease,C3203653,Immunoglobulin G4 related sclerosing disease,,
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,C3280226,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11",,
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,C3280452,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",,
284289,Adult-onset autosomal recessive cerebellar ataxia,C3150998,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10",,
2843,Pentosuria,C0268162,Pentosuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,C1836474,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",,
284339,Pontocerebellar hypoplasia type 7,C3554226,Congenital pontocerebellar hypoplasia type 7,,
284388,Reversible cerebral vasoconstriction syndrome,C3544214,Reversible cerebral vasoconstriction syndrome,,
284417,Phosphoserine aminotransferase deficiency,C1970253,Phosphoserine Aminotransferase Deficiency,,
284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,C2931743,Lactate dehydrogenase deficiency type A,,
284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,C3279904,Lactate Dehydrogenase B Deficiency,,
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,C1859690,CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME,,
2849,Perlman syndrome,C0796113,"Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor",,
284979,Neonatal Marfan syndrome,C4016054,"MARFAN SYNDROME, NEONATAL",,
284984,Aneurysm-osteoarthritis syndrome,C3151087,LOEYS-DIETZ SYNDROME 3,,
285,Hypermobile Ehlers-Danlos syndrome,C0268337,"Ehlers-Danlos syndrome, type 3 (disorder)",,
2850,Alopecia-intellectual disability syndrome,C1859878,Alopecia-Mental Retardation Syndrome 1,,
2850,Alopecia-intellectual disability syndrome,C2931280,Perniola Krajewska Carnevale syndrome,,
2854,Fuhrmann syndrome,C1856728,Fuhrmann syndrome,,
2855,Perrault syndrome,C0685838,Gonadal dysgenesis XX type deafness,,
2856,Persistent Müllerian duct syndrome,C1849930,Persistent Mullerian duct syndrome,,
286,Vascular Ehlers-Danlos syndrome,C0268338,"Ehlers-Danlos Syndrome, Type IV",,
2869,Peutz-Jeghers syndrome,C0031269,Peutz-Jeghers Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2874,Phakomatosis pigmentokeratotica,C2931658,Phacomatosis pigmentokeratotica,,
2879,"Phocomelia, Schinzel type",C1848651,Al Awadi syndrome,,
288,Hereditary elliptocytosis,C0013902,"Elliptocytosis, Hereditary",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2880,Phosphoenolpyruvate carboxykinase deficiency,C0268194,Phosphoenolpyruvate carboxykinase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
2882,Sitosterolemia,C0342907,Sitosterolemia,,
2882,Sitosterolemia,C2749759,"Macrothrombocytopenia-Stomatocytosis, Mediterranean",,
2884,Piebaldism,C0080024,Piebaldism,E00-E90,"Endocrine, nutritional and metabolic diseases"
2886,TARP syndrome,C1839463,TARP syndrome,,
2889,Pili torti,C0263491,Pili Torti,,
289,Ellis Van Creveld syndrome,C0013903,Ellis-Van Creveld Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
289157,Hypocalcemic vitamin D-dependent rickets,C0268689,"Vitamin D-dependent rickets, type 1",,
289176,Autosomal recessive hypophosphatemic rickets,C0342643,Autosomal recessive hypophosphatemic vitamin D refractory rickets,,
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,C3280381,HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY,,
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,C3279840,Methylmalonate Semialdehyde Dehydrogenase Deficiency,,
289326,Tropical spastic paraparesis,C0030481,Tropical Spastic Paraparesis,G00-G99,Diseases of the nervous system
289377,Early-onset myopathy with fatal cardiomyopathy,C2673677,"Myopathy, Early-Onset, with Fatal Cardiomyopathy",,
289380,Myosclerosis,C1611706,Myosclerosis,,
289380,Myosclerosis,C1850671,"Myosclerosis, Autosomal Recessive",,
289390,Primary Sjögren syndrome,C0086981,Sicca Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
289390,Primary Sjögren syndrome,C1527336,Sjogren\'s Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
289465,Isolated congenital adermatoglyphia,C1852150,"Fingerprints, Absence of",,
289499,Congenital cataract microcornea with corneal opacity,C3151617,ANTERIOR SEGMENT DYSGENESIS 7,,
289504,Combined malonic and methylmalonic acidemia,C3280314,Combined Malonic and Methylmalonic Aciduria,,
289539,BAP1-related tumor predisposition syndrome,C3280492,TUMOR PREDISPOSITION SYNDROME,,
289560,Mitochondrial membrane protein-associated neurodegeneration,C3280371,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4,,
289586,Exfoliative ichthyosis,C1838440,ICHTHYOSIS EXFOLIATIVA,,
2896,Pitt-Hopkins syndrome,C1970431,PITT-HOPKINS SYNDROME,,
289601,Hereditary arterial and articular multiple calcification syndrome,C1859372,Calcification of Joints and Arteries,,
2897,Pityriasis rubra pilaris,C0032027,Pityriasis Rubra Pilaris,L00-L99,Diseases of the skin and subcutaneous tissue
289857,Neonatal glycine encephalopathy,C0751748,Nonketotic Hyperglycinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,C1855114,Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency,,
29,Mevalonic aciduria,C0342731,Deficiency of mevalonate kinase,M00-M99,Diseases of the musculoskeletal system and connective tissue
29,Mevalonic aciduria,C1959626,Mevalonic Aciduria,,
290,Congenital rubella syndrome,C0035921,Congenital Rubella Syndrome,P00-P96,Certain conditions originating in the perinatal period
2900,Leri pleonosteosis,C1835450,Leri pleonosteosis,,
2901,Neuralgic amyotrophy,C0221759,Brachial Plexus Neuritis,G00-G99,Diseases of the nervous system
2901,Neuralgic amyotrophy,C1510479,Neuralgic Amyotrophy,G00-G99,Diseases of the nervous system
2902,Idiopathic chronic eosinophilic pneumonia,C0008680,Cryptogenic pulmonary eosinophilia,,
2903,Familial spontaneous pneumothorax,C1868193,"PNEUMOTHORAX, PRIMARY SPONTANEOUS",J00-J99,Diseases of the respiratory system
2905,POEMS syndrome,C0085404,POEMS Syndrome,,
2905,POEMS syndrome,C1510415,Osteosclerotic Myeloma,,
29073,Multiple myeloma,C0026764,Multiple Myeloma,C00-D48,Neoplasms
29073,Multiple myeloma,C0268381,Primary amyloidosis,,
2908,Kindler syndrome,C0406557,Poikiloderma of Kindler,,
2909,Rothmund-Thomson syndrome,C0032339,Rothmund-Thomson syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2911,Poland syndrome,C0032357,Poland Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2912,Poliomyelitis,C0032371,Poliomyelitis,A00-B99,Certain infectious and parasitic diseases
2917,Polydactyly-myopia syndrome,C1868117,"POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",,
2919,Orofaciodigital syndrome type 5,C1868118,Orofaciodigital syndrome 5,,
29207,Reactive arthritis,C0035012,Reiter Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
29207,Reactive arthritis,C0085435,"Arthritis, Reactive",M00-M99,Diseases of the musculoskeletal system and connective tissue
2924,Isolated polycystic liver disease,C0158683,Polycystic liver disease,,
2924,Isolated polycystic liver disease,C0887850,"Polycystic Kidney, Type 1 Autosomal Dominant Disease",,
2929,Juvenile polyposis syndrome,C0345893,Juvenile polyposis syndrome,,
2929,Juvenile polyposis syndrome,C1832942,JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder),,
2930,Cronkhite-Canada syndrome,C0282207,Cronkhite-Canada Syndrome,,
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,C1843292,Skin Fragility-Woolly Hair Syndrome,,
293168,Infantile-onset ascending hereditary spastic paralysis,C2931441,"Hereditary spastic paralysis, infantile onset ascending",,
293173,Acute generalized exanthematous pustulosis,C0877055,Acute Generalized Exanthematous Pustulosis,,
293199,Pleomorphic rhabdomyosarcoma,C0334480,Pleomorphic Rhabdomyosarcoma,,
2932,Chronic inflammatory demyelinating polyneuropathy,C0393819,"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating",G00-G99,Diseases of the nervous system
293202,Epithelioid sarcoma,C0205944,"Sarcoma, Epithelioid",,
293381,Epithelial recurrent erosion dystrophy,C1852551,Epithelial Recurrent Erosion Dystrophy,,
293603,Congenital hereditary endothelial dystrophy type II,C1857569,CORNEAL ENDOTHELIAL DYSTROPHY 2,,
293707,"Blepharophimosis-intellectual disability syndrome, MKB type",C3698541,"Ohdo syndrome, Maat-Kievit-Brunner type",,
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,C3152204,"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8",,
293825,Congenital dyserythropoietic anemia type IV,C3150926,Congenital dyserythropoietic anemia type IV,,
293843,3MC syndrome,C4303860,Craniofacial ulnar renal syndrome,,
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,C2748662,Mitchell-Riley Syndrome,,
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,C3280729,RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES,,
293936,EDICT syndrome,C3280392,EDICT syndrome,,
293948,1p21.3 microdeletion syndrome,C4304578,1p21.3 microdeletion syndrome,,
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,C3280866,THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE),,
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,C3278384,HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY,,
294,Fetal cytomegalovirus syndrome,C0158945,Congenital cytomegalovirus infection,P00-P96,Certain conditions originating in the perinatal period
2940,Porencephaly,C0302892,Congenital porencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
294016,Microcephaly-capillary malformation syndrome,C3280296,Microcephaly-capillary malformation syndrome,,
294963,Popliteal pterygium syndrome,C0265259,Popliteal pterygium syndrome,,
294971,Tetra-amelia,C2931216,Tetra-amelia autosomal recessive,,
294975,Congenital absence of upper arm and forearm with hand present,C0031575,Phocomelia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",C0431886,Thumb in palm deformity,,
2953,Musculocontractural Ehlers-Danlos syndrome,C1866294,"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",,
2957,Guttmacher syndrome,C1867801,"Preaxial deficiency, postaxial polydactyly and hypospadias",,
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,C1839730,Prieto X-linked mental retardation syndrome,,
296,Ollier disease,C0013366,Dyschondroplasias,,
296,Ollier disease,C0014084,Enchondromatosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2962,De Barsy syndrome,C0268354,De Barsy syndrome,,
2963,"Progeroid syndrome, Petty type",C0345382,Gorlin Chaudhry Moss syndrome,,
2963,"Progeroid syndrome, Petty type",C2931653,Petty Laxova Wiedemann syndrome,,
2965,Prolactinoma,C0033375,Prolactinoma,,
2968,Leukocyte adhesion deficiency,C0242597,Leukocyte-Adhesion Deficiency Syndrome,,
2968,Leukocyte adhesion deficiency,C0398738,Leukocyte adhesion deficiency type 1,,
2969,Proteus-like syndrome,C1866398,Proteus-Like Syndrome (disorder),,
297,Tick-borne encephalitis,C0014061,Tick-Borne Encephalitis,A00-B99,Certain infectious and parasitic diseases
2970,Prune belly syndrome,C0033770,Prune Belly Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
2970,Prune belly syndrome,C0265363,Urethral obstruction sequence,,
2971,Peroxisomal acyl-CoA oxidase deficiency,C1849678,Peroxisomal ACYL-COA oxidase deficiency,,
2978,Chronic intestinal pseudoobstruction,C0238062,Chronic intestinal pseudo-obstruction,,
298,Mitochondrial neurogastrointestinal encephalomyopathy,C0872218,MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME,,
2987,Antecubital pterygium syndrome,C1867439,"Pterygium, Antecubital",,
2990,Autosomal recessive multiple pterygium syndrome,C0265261,Multiple pterygium syndrome,,
2995,Baraitser-Winter cerebrofrontofacial syndrome,C1855722,"Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",,
30,Hereditary orotic aciduria,C0220987,Hereditary orotic aciduria,,
30,Hereditary orotic aciduria,C0268128,Orotic aciduria,,
30,Hereditary orotic aciduria,C0268130,"Hereditary orotic aciduria, type 1",,
3000,Familial male-limited precocious puberty,C0342549,Familial Testotoxicosis,,
3000,Familial male-limited precocious puberty,C1504412,Testotoxicosis,,
3000,Familial male-limited precocious puberty,C2674612,"Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty",,
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,C3281160,"EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2",,
3002,Immune thrombocytopenic purpura,C0398650,Immune thrombocytopenic purpura,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,C2676285,"Bone Fragility with Contractures, Arterial Rupture, and Deafness",,
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,C3280953,"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE",,
300298,Severe congenital hypochromic anemia with ringed sideroblasts,C3808920,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2",,
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,C3280965,"CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",,
300319,Charcot-Marie-Tooth disease type 2P,C3280797,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",,
300324,Persistent polyclonal B-cell lymphocytosis,C1847973,Persistent Polyclonal B-Cell Lymphocytosis,,
300333,Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome,C1836823,Nephropathy with Pretibial Epidermolysis Bullosa and Deafness,,
300345,Autosomal systemic lupus erythematosus,C3280742,SYSTEMIC LUPUS ERYTHEMATOSUS 16,,
300359,PLCG2-associated antibody deficiency and immune dysregulation,C3280914,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3,,
300373,X-linked acrogigantism,C3891556,CHROMOSOME Xq26.3 DUPLICATION SYNDROME,,
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,C4310796,MARFAN LIPODYSTROPHY SYNDROME,,
300385,Pituitary carcinoma,C0346300,Pituitary carcinoma,,
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,C3275508,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2,,
3005,Pyle disease,C0265294,Pyle metaphyseal dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
300525,Pseudohypoaldosteronism type 2D,C3469605,"PSEUDOHYPOALDOSTERONISM, TYPE IID",,
300530,Pseudohypoaldosteronism type 2E,C3469606,"PSEUDOHYPOALDOSTERONISM, TYPE IIE",,
300536,DDOST-CDG,C3281084,Congenital disorder of glycosylation type 1r,,
300547,Autosomal recessive infantile hypercalcemia,C0268080,"Hypercalcemia, Idiopathic, of Infancy",,
300547,Autosomal recessive infantile hypercalcemia,C4310232,"Hypercalcemia, Infantile, 1",,
300557,Carcinoma of the ampulla of Vater,C0262401,Carcinoma of ampulla of Vater,,
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,C3808397,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",,
300576,Oligodontia-cancer predisposition syndrome,C1837750,Oligodontia-Colorectal Cancer Syndrome,,
3006,Pyridoxine-dependent epilepsy,C1291560,Deficiency of glutamate decarboxylase,,
3006,Pyridoxine-dependent epilepsy,C1849508,"EPILEPSY, PYRIDOXINE-DEPENDENT",,
3006,Pyridoxine-dependent epilepsy,C4310632,"EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",,
300605,Juvenile amyotrophic lateral sclerosis,C3468114,Juvenile amyotrophic lateral sclerosis,,
300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,C1449563,"Cardiomyopathy, Familial Idiopathic",,
3008,Pyruvate carboxylase deficiency,C0034341,Pyruvate Carboxylase Deficiency Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
300857,T-cell/histiocyte rich large B cell lymphoma,C1321547,T-cell/histiocyte rich large B-cell lymphoma,,
300865,Primary cutaneous anaplastic large cell lymphoma,C1301362,Primary Cutaneous Anaplastic Large Cell Lymphoma,C00-D48,Neoplasms
300878,Hairy cell leukemia variant,C0349633,Hairy cell leukemia variant,,
300903,ALK-negative anaplastic large cell lymphoma,C1332078,"Anaplastic large cell lymphoma, ALK negative",C00-D48,Neoplasms
300912,Marginal zone lymphoma,C0242647,Mucosa-Associated Lymphoid Tissue Lymphoma,C00-D48,Neoplasms
301,Ependymal tumor,C0014474,Ependymoma,,
3015,Radio-renal syndrome,C1867396,RADIAL-RENAL SYNDROME,,
3019,Ramon syndrome,C0796133,Ramon Syndrome,,
302,Epidermodysplasia verruciformis,C0014522,Epidermodysplasia Verruciformis,,
3020,Ramsay Hunt syndrome,C0017409,Herpes Zoster Oticus,A00-B99,Certain infectious and parasitic diseases
3021,RAPADILINO syndrome,C1849453,Rapadilino syndrome,,
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,C1876181,"EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS",,
3027,Caudal regression sequence,C0300948,Caudal Regression Syndrome,,
3027,Caudal regression sequence,C0344490,Sacral agenesis,,
3027,Caudal regression sequence,C1867774,Sacral Agenesis Syndrome,,
3027,Caudal regression sequence,C2609260,Caudal dysplasia syndrome,,
303,Dystrophic epidermolysis bullosa,C0079294,Epidermolysis Bullosa Dystrophica,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3032,NPHP3-related Meckel-like syndrome,C2673885,Renal hepatic pancreatic dysplasia Dandy Walker cyst,,
30391,Isolated biliary atresia,C0005411,Biliary Atresia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
30391,Isolated biliary atresia,C4520983,Congenital atresia of extrahepatic bile duct,,
304,Epidermolysis bullosa simplex,C0079298,Epidermolysis Bullosa Simplex,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,C0796121,Primrose syndrome,,
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",C1863557,Young Simpson syndrome,,
305,Junctional epidermolysis bullosa,C0079301,Junctional Epidermolysis Bullosa,,
3051,Intellectual disability-sparse hair-brachydactyly syndrome,C1303073,Nicolaides Baraitser syndrome,,
3057,Monoamine oxidase A deficiency,C0796275,Brunner Syndrome,,
306,Benign familial infantile epilepsy,C0220669,Familial benign neonatal epilepsy,,
3063,"X-linked intellectual disability, Snyder type",C0796160,"MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE",,
306498,PTEN hamartoma tumor syndrome,C1959582,PTEN Hamartoma Tumor Syndrome,,
306504,Junctional epidermolysis bullosa with respiratory and renal involvement,C3553636,"INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",,
306511,Autosomal recessive spastic paraplegia type 48,C3150901,"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE",,
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,C3150706,FRONTONASAL DYSPLASIA 3,,
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,C3151000,"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS",,
306550,FADD-related immunodeficiency,C3151062,"INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS",,
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,C3280240,"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME",,
306597,X-linked Opitz G/BBB syndrome,C2936904,"Opitz GBBB Syndrome, X-Linked",,
306674,Kufor-Rakeb syndrome,C1847640,KUFOR-RAKEB SYNDROME,,
306731,Sydenham chorea,C0152113,Rheumatic Chorea,I00-I99,Diseases of the circulatory system
306734,"Primary dystonia, DYT21 type",C3281236,DYSTONIA 21,,
307,Juvenile myoclonic epilepsy,C0270853,Juvenile Myoclonic Epilepsy,,
3071,Costello syndrome,C0587248,Costello syndrome (disorder),,
3071,Costello syndrome,C1968782,"MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",,
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,C1968550,"Mental Retardation, X-Linked, Syndromic 13",,
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,C1968551,"Mental Retardation, X-Linked 79",,
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,C3713418,Ppm-X Syndrome,,
308,Unverricht-Lundborg disease,C0751785,Unverricht-Lundborg Syndrome,,
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,C0268119,Combined molybdoflavoprotein enzyme deficiency,,
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,C1854988,"Molybdenum Cofactor Deficiency, Complementation Group A",,
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,C3554078,BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY,,
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,C1855100,Methylmalonyl-CoA Epimerase Deficiency,,
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",C0751173,"Glycogen Storage Disease Type II, Infantile",,
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",C3888924,"Glycogen storage disease due to acid maltase deficiency, infantile onset",,
3086,Autosomal dominant vitreoretinochoroidopathy,C2674009,"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",,
3086,Autosomal dominant vitreoretinochoroidopathy,C3888099,Autosomal dominant vitreoretinochoroidopathy,,
3088,Revesz syndrome,C1327916,REVESZ SYNDROME (disorder),,
309015,Familial lipoprotein lipase deficiency,C0023817,Hyperlipoproteinemia Type I,E00-E90,"Endocrine, nutritional and metabolic diseases"
309020,Familial apolipoprotein C-II deficiency,C0268199,Familial apolipoprotein C-II deficiency,,
309020,Familial apolipoprotein C-II deficiency,C1720779,Apolipoprotein C-II Deficiency (disorder),,
309025,Mevalonate kinase deficiency,C0342731,Deficiency of mevalonate kinase,M00-M99,Diseases of the musculoskeletal system and connective tissue
309025,Mevalonate kinase deficiency,C1959626,Mevalonic Aciduria,,
309147,Hyper-beta-alaninemia,C0268630,Hyper-beta-alaninemia,,
309152,GM2 gangliosidosis,C0039373,Tay-Sachs Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
309152,GM2 gangliosidosis,C0268274,"Gangliosidoses, GM2",E00-E90,"Endocrine, nutritional and metabolic diseases"
30924,Primary hypomagnesemia with secondary hypocalcemia,C1865974,"Hypomagnesemia 1, Intestinal",,
309246,"GM2 gangliosidosis, AB variant",C0268275,"Tay-Sachs Disease, AB Variant",,
30925,Hereditary central diabetes insipidus,C0011848,Diabetes Insipidus,E00-E90,"Endocrine, nutritional and metabolic diseases"
30925,Hereditary central diabetes insipidus,C0687720,Central Diabetes Insipidus,,
309256,"Metachromatic leukodystrophy, late infantile form",C0751278,"Metachromatic Leukodystrophy, Infant",,
309263,"Metachromatic leukodystrophy, juvenile form",C0751276,"Metachromatic leukodystrophy, juvenile type",,
309271,"Metachromatic leukodystrophy, adult form",C0751279,"Metachromatic Leukodystrophy, Adult-Type (disorder)",,
309294,Sialidosis,C0268226,Type I Mucolipidosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
309297,Mucopolysaccharidosis type 4A,C0086651,"Mucopolysaccharidosis, MPS-IV-A",E00-E90,"Endocrine, nutritional and metabolic diseases"
309297,Mucopolysaccharidosis type 4A,C3179194,GALNS Deficiency,,
309324,"Free sialic acid storage disease, infantile form",C1096902,Infantile Sialic Acid Storage Disease,,
309324,"Free sialic acid storage disease, infantile form",C1963905,Infantile free sialic acid storage disease,,
309324,"Free sialic acid storage disease, infantile form",C2930923,N-Acetylneuraminic acid storage disease,,
309334,Salla disease,C1096903,"Sialic Acid Storage Disease, Finnish Type (disorder)",,
3097,Meacham syndrome,C1837026,MEACHAM SYNDROME (disorder),,
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,C2750442,Hypermanganesemia with Dystonia Polycythemia and Cirrhosis,,
3099,Rheumatic fever,C0035436,Rheumatic Fever,I00-I99,Diseases of the circulatory system
31,Oxoglutaric aciduria,C2752074,ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY,,
310,Reflex epilepsy,C0270857,"Epilepsy, Reflex",,
3102,Richieri Costa-Pereira syndrome,C1849348,Richieri Costa Pereira syndrome,,
3103,Roberts syndrome,C0392475,Roberts-SC phocomelia syndrome,,
31043,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,C0268448,Primary hypomagnesemia (disorder),,
31043,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,C3151482,"HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",,
3107,Autosomal dominant Robinow syndrome,C0265205,Robinow Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3109,Mayer-Rokitansky-Küster-Hauser syndrome,C1698581,Rokitansky Kuster Hauser syndrome,,
3111,Rotor syndrome,C0220991,Rotor Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
31112,Dermatofibrosarcoma protuberans,C0392784,Dermatofibrosarcoma Protuberans,,
31112,Dermatofibrosarcoma protuberans,C3693482,Giant Cell Fibroblastoma,,
31150,Tangier disease,C0039292,Tangier Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
312,Autosomal dominant epidermolytic ichthyosis,C0079153,"Hyperkeratosis, Epidermolytic",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
31202,Melioidosis,C0025229,Melioidosis,A00-B99,Certain infectious and parasitic diseases
31204,Nocardiosis,C0028242,Nocardia Infections,A00-B99,Certain infectious and parasitic diseases
3124,Saccharopinuria,C0268556,Saccharopinuria,,
3124,Saccharopinuria,C2936921,Saccharopine dehydrogenase deficiency,,
3129,Sarcosinemia,C0268563,Sarcosinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
313,Lamellar ichthyosis,C0079154,Congenital Nonbullous Ichthyosiform Erythroderma,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3137,Alpha-N-acetylgalactosaminidase deficiency,C1836544,"Schindler Disease, Type I",,
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,C3280977,"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",,
313795,Jawad syndrome,C0796063,microcephaly-digital anomalies syndrome,,
3138,Ulnar-mammary syndrome,C1866994,Ulnar-mammary syndrome,,
313808,Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,C3711381,Hereditary Diffuse Leukoencephalopathy with Spheroids,,
313838,Coats plus syndrome,C2677299,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder),,
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,C3281203,"CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL",,
313850,Infantile cerebellar-retinal degeneration,C3281192,INFANTILE CEREBELLAR-RETINAL DEGENERATION,,
313855,FGFR2-related bent bone dysplasia,C3281247,BENT BONE DYSPLASIA SYNDROME,,
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,C3554079,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12,,
3143,Autoimmune polyendocrinopathy type 2,C0085409,"Polyendocrinopathies, Autoimmune",E00-E90,"Endocrine, nutritional and metabolic diseases"
3143,Autoimmune polyendocrinopathy type 2,C0085860,"Autoimmune Syndrome Type II, Polyglandular",E00-E90,"Endocrine, nutritional and metabolic diseases"
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,C3553270,DIARRHEA 6,,
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,C2939175,Meconium ileus,P00-P96,Certain conditions originating in the perinatal period
314381,Hereditary sensory and autonomic neuropathy type 6,C3539003,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",,
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,C3542022,"SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME",,
314399,Autosomal dominant aplasia and myelodysplasia,C3808553,Bone marrow failure syndrome 1,,
3144,Schneckenbecken dysplasia,C0432194,Schneckenbecken dysplasia,,
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,C3807295,"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",,
314419,Ameloblastoma,C0002448,Ameloblastoma,,
314451,Meigs syndrome,C0025184,Meigs Syndrome,,
314473,Ovarian fibroma,C0149951,Ovarian Fibromata,,
314485,Young adult-onset distal hereditary motor neuropathy,C3553989,"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",,
314555,Craniofacial dysplasia-osteopenia syndrome,C1970027,"Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",,
314597,Chudley-McCullough syndrome,C1858695,Chudley-Mccullough syndrome,,
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,C1969645,"Ataxia, Spastic, 3, Autosomal Recessive",,
314629,CLN11 disease,C3539123,"CEROID LIPOFUSCINOSIS, NEURONAL, 11",,
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,C3553529,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10,,
314647,Non-progressive cerebellar ataxia with intellectual disability,C3553661,"CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION",,
314652,Variant ABeta2M amyloidosis,C4302669,Autosomal dominant beta2-microglobulinic amyloidosis,,
314667,TMEM165-CDG,C3553571,Carbohydrate deficient glycoprotein syndrome type 2k,,
314679,Cerebrofacioarticular syndrome,C1832390,Van Maldergem Wetzburger Verloes syndrome,,
314684,Primary bone lymphoma,C1332582,Primary Lymphoma of Bone,,
314689,Combined immunodeficiency due to STK4 deficiency,C3553943,"T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS",,
314701,Primary systemic amyloidosis,C0268381,Primary amyloidosis,,
314777,Familial isolated pituitary adenoma,C1863340,PITUITARY ADENOMA PREDISPOSITION (disorder),,
314795,SHOX-related short stature,C1845118,"SHORT STATURE, IDIOPATHIC, X-LINKED",,
3148,Malignant peripheral nerve sheath tumor,C0206729,Neurofibrosarcoma,,
3148,Malignant peripheral nerve sheath tumor,C0751690,Malignant Peripheral Nerve Sheath Tumor,,
314802,Short stature due to partial GHR deficiency,C1858656,"Short Stature, Idiopathic, Autosomal",,
314811,Short stature due to GHSR deficiency,C1858656,"Short Stature, Idiopathic, Autosomal",,
314911,Severe Canavan disease,C0751664,"Canavan Disease, Neonatal",,
314911,Severe Canavan disease,C0751666,"Canavan Disease, Infantile",,
314918,Mild Canavan disease,C0751667,"Canavan Disease, Juvenile",,
3152,Sclerosteosis,C0265301,Sclerosteosis,,
3156,Senior-Loken syndrome,C0403553,Renal dysplasia and retinal aplasia (disorder),,
3157,Septo-optic dysplasia spectrum,C0162809,Kallmann Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
3157,Septo-optic dysplasia spectrum,C0338503,Septo-Optic Dysplasia,,
3157,Septo-optic dysplasia spectrum,C2750027,Growth Hormone Deficiency With Pituitary Anomalies,,
316,Progressive symmetric erythrokeratodermia,C0265961,Erythrokeratodermia variabilis,,
3162,Sézary syndrome,C0036920,Sezary Syndrome,C00-D48,Neoplasms
3163,SHORT syndrome,C0878684,SHORT syndrome,,
3166,Sialuria,C0342853,Sialuria,,
3168,Sillence syndrome,C0342282,Multiple synostoses syndrome 1,,
3169,Sirenomelia,C0037205,Sirenomelia,,
317,Erythrokeratodermia variabilis,C0265961,Erythrokeratodermia variabilis,,
31709,Infantile convulsions and choreoathetosis,C1865926,"Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",,
31740,Hypersensitivity pneumonitis,C0002390,Extrinsic allergic alveolitis,J00-J99,Diseases of the respiratory system
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,C4014833,IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES,,
317428,Combined immunodeficiency due to ORAI1 deficiency,C2748568,Immune dysfunction with T-cell inactivation due to calcium entry defect 1,,
317430,Combined immunodeficiency due to STIM1 deficiency,C2748557,Immune dysfunction with T-cell inactivation due to calcium entry defect 2,,
317473,Pancytopenia due to IKZF1 mutations,C4225173,"IMMUNODEFICIENCY, COMMON VARIABLE, 13",,
317476,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",C3275445,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",,
31837,Pulmonary venoocclusive disease,C0034091,Pulmonary Veno-Occlusive Disease (disorder),,
31837,Pulmonary venoocclusive disease,C3887658,"PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",,
3189,Congenital pulmonary valve stenosis,C0034089,Pulmonary Valve Stenosis,,
319,Ewing sarcoma,C0553580,Ewings sarcoma,,
319,Ewing sarcoma,C0877849,Askin\'s tumor,,
319,Ewing sarcoma,C3489398,"Neuroepithelioma, Peripheral",,
319160,Congenital myopathy with internal nuclei and atypical cores,C3553709,"MYOPATHY, CENTRONUCLEAR, 4",,
319182,Wiedemann-Steiner syndrome,C1854630,Growth Deficiency and Mental Retardation with Facial Dysmorphism,,
319189,Familial cortical myoclonus,C3539916,"MYOCLONUS, FAMILIAL CORTICAL",,
319199,Autosomal recessive spastic paraplegia type 53,C3539494,"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE",,
319218,Ebola hemorrhagic fever,C0282687,"Hemorrhagic Fever, Ebola",A00-B99,Certain infectious and parasitic diseases
319251,Rift valley fever,C0035613,Rift Valley Fever,A00-B99,Certain infectious and parasitic diseases
319276,Clear cell renal carcinoma,C0279702,Conventional (Clear Cell) Renal Cell Carcinoma,,
319298,Papillary renal cell carcinoma,C1306837,Papillary Renal Cell Carcinoma,,
3193,Supravalvular aortic stenosis,C0003499,Supravalvular aortic stenosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3193,Supravalvular aortic stenosis,C1305147,Congenital supravalvular aortic stenosis,,
319303,Chromophobe renal cell carcinoma,C1266042,Chromophobe Renal Cell Carcinoma,,
319319,Renal medullary carcinoma,C4049328,Renal medullary carcinoma,,
319340,Carney complex-trismus-pseudocamptodactyly syndrome,C1837245,Carney Complex Variant,,
319504,Combined oxidative phosphorylation defect type 8,C3279793,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8,,
319509,Combined oxidative phosphorylation defect type 9,C3281234,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9,,
319514,Combined oxidative phosphorylation defect type 13,C3554129,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13,,
319519,Combined oxidative phosphorylation defect type 14,C3554168,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14,,
319524,Combined oxidative phosphorylation defect type 15,C3554182,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15,,
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,C4013949,IMMUNODEFICIENCY 30,,
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,C4013948,IMMUNODEFICIENCY 29,,
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,C4015293,IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION,,
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,C4014863,IMMUNODEFICIENCY 27B,,
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,C4013950,IMMUNODEFICIENCY 31A,,
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,C3808589,IMMUNODEFICIENCY 32A,,
319612,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,C1970879,"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",,
319623,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,C1970859,"Atypical Mycobacteriosis, Familial, X-Linked 2",,
319640,Retinal macular dystrophy type 2,C0339512,Bull\'s eye macular dystrophy,,
319646,PGM1-CDG,C2752015,Glycogen Storage Disease XIV,,
319651,Constitutional megaloblastic anemia with severe neurologic disease,C3151205,Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency,,
319671,"Microcephalic primordial dwarfism, Alazami type",C3554439,ALAZAMI SYNDROME,,
319675,"Microcephalic primordial dwarfism, Dauber type",C3553870,SECKEL SYNDROME 7,,
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,C3553374,"COENZYME Q10 DEFICIENCY, PRIMARY, 5",,
3197,Hereditary hyperekplexia,C1835614,Hereditary Hyperexplexia,,
3198,Stiff person syndrome and related disorders,C0085292,Stiff-Person Syndrome,G00-G99,Diseases of the nervous system
3198,Stiff person syndrome and related disorders,C1861457,PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY,,
32,Glutathione synthetase deficiency,C0398746,Gluthathione synthetase deficiency,,
320,Apparent mineralocorticoid excess,C0342488,"Mineralocorticoid Excess Syndrome, Apparent",,
320,Apparent mineralocorticoid excess,C3887949,Apparent mineralocorticoid excess,,
3202,Dehydrated hereditary stomatocytosis,C0272051,Xerocytosis,,
3203,Overhydrated hereditary stomatocytosis,C1861455,STOMATOCYTOSIS I,,
320355,Autosomal dominant spastic paraplegia type 41,C3888208,"SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT",,
320365,Autosomal dominant spastic paraplegia type 36,C2936879,"SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT",,
320370,Autosomal recessive spastic paraplegia type 43,C2680446,"SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",,
320375,Autosomal recessive spastic paraplegia type 55,C3539506,"SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",,
320380,Autosomal recessive spastic paraplegia type 54,C3539495,"SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE",,
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,C3542549,"SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE",,
320391,Autosomal recessive spastic paraplegia type 46,C2828721,"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE",,
320396,Autosomal recessive spastic paraplegia type 45,C3888209,"SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE",,
3204,Stormorken-Sjaastad-Langslet syndrome,C1861451,Stormorken Syndrome,,
320401,Autosomal recessive spastic paraplegia type 44,C2750784,"SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",,
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,C1836010,"Spastic Paraplegia, Optic Atrophy, and Neuropathy",,
320411,Autosomal recessive spastic paraplegia type 56,C3539507,"SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE",,
3205,Sturge-Weber syndrome,C0038505,Sturge-Weber Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3206,Stüve-Wiedemann syndrome,C0432240,Stuve-Wiedemann dysplasia,,
3206,Stüve-Wiedemann syndrome,C0796176,STUVE-WIEDEMANN SYNDROME,,
3208,Isolated succinate-CoQ reductase deficiency,C1855008,Mitochondrial Complex II Deficiency,,
321,Multiple osteochondromas,C0015306,Hereditary Multiple Exostoses,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
321,Multiple osteochondromas,C0206641,Osteochondromatosis,,
3214,"Deaf blind hypopigmentation syndrome, Yemenite type",C1866425,Yemenite deaf-blind hypopigmentation syndrome,,
322,Exstrophy-epispadias complex,C0005689,Bladder Exstrophy,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
322,Exstrophy-epispadias complex,C1838703,Bladder Exstrophy and Epispadias Complex,,
3220,Deafness-enamel hypoplasia-nail defects syndrome,C1856186,Deafness enamel hypoplasia nail defects,,
3222,Phosphoribosylpyrophosphate synthetase superactivity,C1970827,Phosphoribosylpyrophosphate Synthetase Superactivity,,
3226,Deafness-lymphedema-leukemia syndrome,C3279664,Emberger syndrome,,
3233,Cochleosaccular degeneration-cataract syndrome,C1861512,Cochleosaccular degeneration of the inner ear and progressive cataracts,,
3235,Progressive deafness with stapes fixation,C1844678,Progressive hearing loss stapes fixation,,
3237,Multiple synostoses syndrome,C0175700,Multiple synostosis syndrome,,
3237,Multiple synostoses syndrome,C0342282,Multiple synostoses syndrome 1,,
3238,Cardiospondylocarpofacial syndrome,C2931461,Forney Robinson Pascoe syndrome,,
324,Fabry disease,C0002986,Fabry Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
324,Fabry disease,C1970820,"Fabry Disease, Cardiac Variant",,
3242,Renpenning syndrome,C0796135,Renpenning syndrome 1,,
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,C3553816,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",,
324290,Early-onset Lafora body disease,C4225258,"EPILEPSY, PROGRESSIVE MYOCLONIC, 10",,
3243,Sweet syndrome,C0085077,Sweet Syndrome,L00-L99,Diseases of the skin and subcutaneous tissue
324321,Sinoatrial node dysfunction and deafness,C3554018,SINOATRIAL NODE DYSFUNCTION AND DEAFNESS,,
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,C3550913,"MENTAL RETARDATION, X-LINKED, SYNDROMIC 32",,
324442,Autosomal recessive axonal neuropathy with neuromyotonia,C0242287,Isaacs syndrome,,
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,C3553961,"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",,
324535,Combined oxidative phosphorylation defect type 11,C3554067,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11,,
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,C3809781,Cole disease,,
324569,Pontocerebellar hypoplasia type 8,C3554209,Congenital pontocerebellar hypoplasia type 8,,
324575,Hyperinsulinism due to HNF1A deficiency,C4303475,Hyperinsulinism due to HNF1A deficiency,,
324588,Familial dyskinesia and facial myokymia,C1847627,"Dyskinesia, Familial, with Facial Myokymia",,
324625,Chikungunya,C0008055,Chikungunya Fever,A00-B99,Certain infectious and parasitic diseases
324737,SRD5A3-CDG,C4317224,Congenital disorder of glycosylation type 1q,,
324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,C0410422,Chronic multifocal osteomyelitis,M00-M99,Diseases of the musculoskeletal system and connective tissue
324977,Proteasome disability syndrome,C1850568,Nakajo syndrome,,
325,Congenital factor II deficiency,C0020640,Inherited Factor II deficiency,,
325,Congenital factor II deficiency,C0272317,Hereditary factor II deficiency disease,,
325,Congenital factor II deficiency,C3203356,Factor II deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
3250,Proximal symphalangism,C1861385,"SYMPHALANGISM, PROXIMAL",,
3250,Proximal symphalangism,C3714899,"SYMPHALANGISM, PROXIMAL, 1A",,
3253,Zlotogora-Ogur syndrome,C1833538,OROFACIAL CLEFT 7,,
3253,Zlotogora-Ogur syndrome,C2931488,Zlotogora-Ogur syndrome,,
3255,Filippi syndrome,C0795940,Filippi syndrome,,
3258,Cenani-Lenz syndrome,C1859309,Syndactyly Cenani Lenz type,,
326,Congenital factor V deficiency,C0015499,Hereditary Factor V Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
326,Congenital factor V deficiency,C4317320,Factor V deficiency,,
3260,Idiopathic hypereosinophilic syndrome,C0206141,Idiopathic Hypereosinophilic Syndrome,,
3261,Autoimmune lymphoproliferative syndrome,C1328840,Autoimmune Lymphoproliferative Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
3261,Autoimmune lymphoproliferative syndrome,C1866119,"Autoimmune Lymphoproliferative Syndrome, Type IA",,
3261,Autoimmune lymphoproliferative syndrome,C1866120,"Autoimmune Lymphoproliferative Syndrome, Type IB",,
3265,Humero-radial synostosis,C2930865,Ramer Ladda syndrome,,
3269,Congenital radioulnar synostosis,C0158761,Radioulnar Synostosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
327,Congenital factor VII deficiency,C0015503,Factor VII Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
3273,Synovial sarcoma,C0039101,synovial sarcoma,,
3275,Spondylocarpotarsal synostosis,C1848934,SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME,,
328,Congenital factor X deficiency,C0015519,Factor X Deficiency,,
3280,Syringomyelia,C0039144,Syringomyelia,,
3283,His bundle tachycardia,C0039235,"Tachycardia, Ectopic Junctional",,
3283,His bundle tachycardia,C0039240,Supraventricular tachycardia,I00-I99,Diseases of the circulatory system
3286,Catecholaminergic polymorphic ventricular tachycardia,C1631597,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",,
3287,Takayasu arteritis,C0039263,Takayasu Arteritis,M00-M99,Diseases of the musculoskeletal system and connective tissue
329,Congenital factor XI deficiency,C0015523,Hereditary Factor XI Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,C3554385,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu",,
329191,Tall stature-scoliosis-macrodactyly of the great toes syndrome,C4014690,"EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",,
329195,Developmental delay with autism spectrum disorder and gait instability,C3809753,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38",,
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,C0242852,Proliferative vitreoretinopathy,,
329224,Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,C3554343,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 17",,
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,C3554499,"MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE",,
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,C3550963,"HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT",,
329242,Congenital chronic diarrhea with protein-losing enteropathy,C4014516,DIARRHEA 7,,
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,C3554366,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q",,
329284,Beta-propeller protein-associated neurodegeneration,C3550973,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5,,
329308,Fatty acid hydroxylase-associated neurodegeneration,C3668943,Fatty Acid Hydroxylase-Associated Neurodegeneration,,
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,C4310733,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",,
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,C4511138,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,,
329457,Distal arthrogryposis type 5D,C3554415,"ARTHROGRYPOSIS, DISTAL, TYPE 5D",,
329466,"Autosomal dominant focal dystonia, DYT25 type",C3554447,DYSTONIA 25,,
329481,Lipoprotein glomerulopathy,C2673196,LIPOPROTEIN GLOMERULOPATHY,,
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,C1275126,TNF receptor-associated periodic fever syndrome (TRAPS),,
329802,5p13 microduplication syndrome,C2750805,Chromosome 5p13 Duplication Syndrome,,
329918,C3 glomerulopathy,C4087273,C3 glomerulopathy,,
329967,Intermittent hydrarthrosis,C0149910,Intermittent joint effusion,M00-M99,Diseases of the musculoskeletal system and connective tissue
329971,Generalized juvenile polyposis/juvenile polyposis coli,C0345893,Juvenile polyposis syndrome,,
329971,Generalized juvenile polyposis/juvenile polyposis coli,C1832940,JUVENILE POLYPOSIS OF STOMACH,,
329971,Generalized juvenile polyposis/juvenile polyposis coli,C1868081,Juvenile Polyposis Coli,,
329984,Goblet cell carcinoma,C0205695,"Carcinoid, Goblet Cell",,
33,Isovaleric acidemia,C0268575,Isovaleryl-CoA dehydrogenase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
330,Congenital factor XII deficiency,C0015526,Factor XII Deficiency,,
33001,Lymphedema-distichiasis syndrome,C0265345,Lymphedema distichiasis syndrome,,
33001,Lymphedema-distichiasis syndrome,C2675066,Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus,,
330012,High altitude pulmonary edema,C0340100,High altitude pulmonary edema,,
330015,Lead poisoning,C0023176,Lead Poisoning,S00-T98,"Injury, poisoning and certain other consequences of external causes"
330021,Mercury poisoning,C0025427,Mercury Poisoning,S00-T98,"Injury, poisoning and certain other consequences of external causes"
330041,Hemoglobin M disease,C3665425,Hemoglobin M Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,C3280660,"ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",,
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,C2751320,"Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay",,
330058,Hydroa vacciniforme,C0020241,Hydroa Vacciniforme,,
330061,Actinic prurigo,C0406217,Actinic prurigo,,
3301,Tetraamelia-multiple malformations syndrome,C2931218,Tetraamelia multiple malformations,,
3303,Tetralogy of Fallot,C0039685,Tetralogy of Fallot,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
33067,"Metaphyseal chondrodysplasia, Jansen type",C0265295,Jansen type metaphyseal chondrodysplasia,,
33069,Dravet syndrome,C0751122,Infantile Severe Myoclonic Epilepsy,,
331,Congenital factor XIII deficiency,C0015530,Hereditary Factor XIII Deficiency,,
33108,Lethal multiple pterygium syndrome,C1854678,"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE",,
33110,Autosomal agammaglobulinemia,C1832241,"Agammaglobulinemia, non-Bruton type",,
33111,Granulomatous slack skin,C0376407,Granulomatous Slack Skin,,
331176,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,C2675526,"Neutropenia, Severe Congenital, Autosomal Recessive 4",,
331176,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,C2751630,Dursun Syndrome,,
331187,Immunodeficiency due to MASP-2 deficiency,C3151085,MASP2 Deficiency,,
331190,Immunodeficiency due to ficolin3 deficiency,C3151226,FICOLIN 3 DEFICIENCY,,
3312,Thalidomide embryopathy,C0432365,Thalidomide embryopathy syndrome,,
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,C1832322,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",,
331226,Susceptibility to infection due to TYK2 deficiency,C1969086,Tyrosine Kinase 2 Deficiency,,
3318,Essential thrombocythemia,C0040028,"Thrombocythemia, Essential",C00-D48,Neoplasms
3319,Congenital amegakaryocytic thrombocytopenia,C1327915,Congenital amegakaryocytic thrombocytopenia,,
332,Congenital intrinsic factor deficiency,C0340957,Congenital deficiency of intrinsic factor,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
332,Congenital intrinsic factor deficiency,C1394891,Intrinsic Factor Deficiency,,
3320,Thrombocytopenia-absent radius syndrome,C0175703,Thrombocytopenia-Absent Radius Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
33208,Idiopathic hypersomnia,C0751757,"Hypersomnolence, Idiopathic",G00-G99,Diseases of the nervous system
3322,Hoyeraal-Hreidarsson syndrome,C1846142,HOYERAAL-HREIDARSSON SYNDROME,,
33226,Waldenström macroglobulinemia,C0024419,Waldenstrom Macroglobulinemia,C00-D48,Neoplasms
3325,Heparin-induced thrombocytopenia,C0272285,Heparin-induced thrombocytopenia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
33276,Kaposi sarcoma,C0036220,Kaposi Sarcoma,C00-D48,Neoplasms
3329,Tibial aplasia-ectrodactyly syndrome,C1861553,Split-Hand-Foot Malformation With Long Bone Deficiency 1,,
333,Farber disease,C0268255,Farber Lipogranulomatosis,,
33355,Reticular dysgenesis,C0272167,Reticular dysgenesis,,
33355,Reticular dysgenesis,C1282908,De Vaal\'s syndrome,,
33364,Trichothiodystrophy,C1955934,Trichothiodystrophy Syndromes,,
3337,Primary Fanconi syndrome,C0341703,Adult Fanconi syndrome,,
3338,Toriello-Carey syndrome,C0796184,"Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",,
3339,Toriello-Lacassie-Droste syndrome,C1838329,APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS,,
33402,Pediatric hepatocellular carcinoma,C0279606,Childhood Hepatocellular Carcinoma,,
3342,Arterial tortuosity syndrome,C1859726,ARTERIAL TORTUOSITY SYNDROME,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
33445,Neuroectodermal melanolysosomal disease,C1860157,Elejalde Disease,,
33475,Meningococcal meningitis,C0025294,Meningococcal meningitis,A00-B99,Certain infectious and parasitic diseases
3352,Tricho-dento-osseous syndrome,C0265333,Tricho-dento-osseous syndrome (disorder),,
33543,Kleine-Levin syndrome,C0206085,Kleine-Levin Syndrome,G00-G99,Diseases of the nervous system
33572,5-oxoprolinase deficiency,C0268525,5-oxoprolinase deficiency,,
33573,Gamma-glutamyl transpeptidase deficiency,C0268524,gamma-Glutamyltransferase deficiency,,
33574,Glutamate-cysteine ligase deficiency,C1856603,"Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to",,
33577,Nodular non-suppurative panniculitis,C0030328,"Panniculitis, Nodular Nonsuppurative",M00-M99,Diseases of the musculoskeletal system and connective tissue
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,C1848745,Oliver-McFarlane syndrome,,
3366,Isolated trigonocephaly,C0265535,Trigonocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
337,Fibrodysplasia ossificans progressiva,C0016037,Fibrodysplasia Ossificans Progressiva,M00-M99,Diseases of the musculoskeletal system and connective tissue
337,Fibrodysplasia ossificans progressiva,C0027122,Myositis Ossificans,,
3375,Trisomy X,C0041107,Trisomy,,
3375,Trisomy X,C0221033,Trisomy X syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3376,Triploidy,C0333693,Triploidy syndrome,,
3377,Trismus-pseudocamptodactyly syndrome,C0265226,Hecht syndrome (disorder),,
3378,Trisomy 13,C0152095,Patau syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3380,Trisomy 18,C0152096,Complete trisomy 18 syndrome,,
3384,Truncus arteriosus,C0041207,"Truncus Arteriosus, Persistent",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3385,African trypanosomiasis,C0041228,African Trypanosomiasis,A00-B99,Certain infectious and parasitic diseases
3386,American trypanosomiasis,C0041234,Chagas Disease,A00-B99,Certain infectious and parasitic diseases
3389,Tuberculosis,C0041296,Tuberculosis,A00-B99,Certain infectious and parasitic diseases
3392,Tularemia,C0041351,Tularemia,A00-B99,Certain infectious and parasitic diseases
3394,Soft tissue sarcoma,C0334492,Malignant mesenchymal tumor,,
3394,Soft tissue sarcoma,C1261473,Sarcoma,,
3398,Thymic epithelial neoplasm,C1266101,Thymic epithelial tumor,,
3399,Germ cell tumor,C0740345,Germ Cell Cancer,,
340,Hemorrhagic fever-renal syndrome,C0019101,Hemorrhagic Fever with Renal Syndrome,A00-B99,Certain infectious and parasitic diseases
3403,Uhl anomaly,C0265857,Uhl anomaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3406,Ulerythema ophryogenesis,C0263428,Burnett Schwartz Berberian syndrome,,
341,Viral hemorrhagic fever,C0019104,"Hemorrhagic Fevers, Viral",A00-B99,Certain infectious and parasitic diseases
341,Viral hemorrhagic fever,C0282687,"Hemorrhagic Fever, Ebola",A00-B99,Certain infectious and parasitic diseases
3412,VACTERL with hydrocephalus,C1848599,VACTERL Association With Hydrocephalus,,
3412,VACTERL with hydrocephalus,C1848600,Vater Association With Hydrocephalus,,
3412,VACTERL with hydrocephalus,C2749240,Vater Association With Macrocephaly And Ventriculomegaly,,
34149,Autosomal dominant tubulointerstitial kidney disease,C2939174,Medullary cystic disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3416,Hyperostosis corticalis generalisata,C0432272,Van Buchem disease,,
342,Familial Mediterranean fever,C0031069,Familial Mediterranean Fever,M00-M99,Diseases of the musculoskeletal system and connective tissue
342,Familial Mediterranean fever,C0585274,Periodic syndrome,,
3426,Double outlet right ventricle,C0013069,Double Outlet Right Ventricle,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
343,Hyperimmunoglobulinemia D with periodic fever,C0398691,Hyperimmunoglobulinemia D,,
3434,MMEP syndrome,C1832440,"MICROPHTHALMIA, SYNDROMIC 8",,
3437,Vogt-Koyanagi-Harada disease,C0042170,Uveomeningoencephalitic Syndrome,H00-H59,Diseases of the eye and adnexa
3440,Waardenburg syndrome,C3266898,Waardenburg Syndrome,,
3447,Weaver syndrome,C0220765,Weaver-Like Syndrome,,
3447,Weaver syndrome,C0265210,Weaver syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
3449,Weill-Marchesani syndrome,C0265313,Weill-Marchesani syndrome,,
3451,West syndrome,C0037769,West Syndrome,G00-G99,Diseases of the nervous system
34514,Telethonin-related  limb-girdle muscular dystrophy R7,C1866008,"Muscular Dystrophy, Limb-Girdle, Type 2G",,
34515,FKRP-related  limb-girdle muscular dystrophy R9,C1846672,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",,
34516,DNAJB6-related  limb-girdle muscular dystrophy D1,C3148763,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",,
34516,DNAJB6-related  limb-girdle muscular dystrophy D1,C3501858,"Muscular Dystrophy, Limb-Girdle, Type 1D",,
3452,Whipple disease,C0023788,Whipple Disease,K00-K93,Diseases of the digestive system
34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,C2750786,"Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency",,
34527,Familial primary hypomagnesemia with normocalciuria and normocalcemia,C4510731,Familial primary hypomagnesemia with normocalciuria and normocalcemia,,
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,C1835171,"Hypomagnesemia 2, renal",,
3453,Autoimmune polyendocrinopathy type 1,C0085859,Polyglandular Type I Autoimmune Syndrome,,
3453,Autoimmune polyendocrinopathy type 1,C1855868,"Polyglandular Deficiency Syndrome, Persian-Jewish Type",,
3453,Autoimmune polyendocrinopathy type 1,C1855869,"Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",,
3453,Autoimmune polyendocrinopathy type 1,C3494489,"Autoimmune polyendocrinopathy syndrome, type 1",,
34533,Corneal dystrophy,C0010035,Hereditary corneal dystrophy,H00-H59,Diseases of the eye and adnexa
34533,Corneal dystrophy,C0010036,Corneal dystrophy,,
3454,Intellectual disability-developmental delay-contractures syndrome,C0796200,Wieacker-Wolff syndrome,,
3454,Intellectual disability-developmental delay-contractures syndrome,C1839735,MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME,,
3456,Wildervanck syndrome,C0265239,Wildervanck\'s syndrome,,
34587,Glycogen storage disease due to LAMP-2 deficiency,C0878677,Glycogen Storage Disease Type IIb,,
3459,Wilson-Turner syndrome,C1839736,WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME,,
34592,Immunodeficiency by defective expression of MHC class I,C1858266,"Bare Lymphocyte Syndrome, Type I",,
3463,Wolfram syndrome,C0043207,Wolfram Syndrome,,
3464,Woodhouse-Sakati syndrome,C0342286,Woodhouse Sakati syndrome,,
3467,Hereditary xanthinuria,C0220988,Xanthinuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
347,Frasier syndrome,C0950122,Frasier Syndrome,,
3471,Young syndrome,C0340037,Young Syndrome,,
3472,Yunis-Varon syndrome,C1857663,Yunis Varon syndrome,,
3473,Zimmermann-Laband syndrome,C0796013,Zimmerman Laband syndrome,,
3474,CHIME syndrome,C1848392,Zunich neuroectodermal syndrome,,
348,"Fructose-1,6-bisphosphatase deficiency",C0016756,"Fructose-1,6-Diphosphatase Deficiency",E00-E90,"Endocrine, nutritional and metabolic diseases"
349,Fucosidosis,C0016788,Fucosidase Deficiency Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
35,Propionic acidemia,C0268579,Propionic acidemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
35,Propionic acidemia,C2717876,Propionicaciduria,,
35069,Infantile neuroaxonal dystrophy,C0270724,Infantile Neuroaxonal Dystrophy,,
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,C1833275,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",,
35098,Isolated plagiocephaly,C0265529,Plagiocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
351,Galactosialidosis,C0268233,GALACTOSIALIDOSIS,,
35107,Desmosterolosis,C1865596,Desmosterolosis,,
35121,Lysosomal acid phosphatase deficiency,C0268410,Acid Phosphatase Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
35122,Congenital sucrase-isomaltase deficiency,C1283620,"Sucrase-isomaltase deficiency, congenital",E00-E90,"Endocrine, nutritional and metabolic diseases"
35125,Epidermal nevus syndrome,C0334082,"NEVUS, EPIDERMAL (disorder)",,
35173,X-linked dominant chondrodysplasia punctata,C0263627,Calcinosis universalis,,
35173,X-linked dominant chondrodysplasia punctata,C0282102,"Chondrodysplasia punctata, X-linked dominant type",,
352,Galactosemia,C0016952,Galactosemias,E00-E90,"Endocrine, nutritional and metabolic diseases"
352328,MEGDEL syndrome,C3553597,"3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",,
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,C3280856,"ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",,
352403,Spectrin-associated autosomal recessive cerebellar ataxia,C3809327,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14",,
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,C3554462,MITOCHONDRIAL DNA DEPLETION SYNDROME 11,,
352470,DNA2-related mitochondrial DNA deletion syndrome,C3554599,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6",,
352479,ISPD-related  limb-girdle muscular dystrophy R20,C4015095,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",,
352490,Autism spectrum disorder due to AUTS2 deficiency,C4014435,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 26",,
352540,Oncogenic osteomalacia,C1274103,Oncogenic osteomalacia,,
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,C3809339,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16,,
352577,Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,C3809650,BAINBRIDGE-ROPERS SYNDROME,,
352582,Familial infantile myoclonic epilepsy,C0917800,"Epilepsy, Myoclonic, Infantile",,
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,C3809665,"SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",,
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,C3808876,"PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING",,
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,C3554654,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F",,
352675,X-linked Charcot-Marie-Tooth disease type 6,C3806702,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6",,
352682,Cobblestone lissencephaly without muscular or ocular involvement,C3554657,LISSENCEPHALY 5,,
352709,CLN13 disease,C3715049,"CEROID LIPOFUSCINOSIS, NEURONAL, 13",,
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,C3554576,"FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE",,
352718,Progressive retinal dystrophy due to retinol transport defect,C3554593,"RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",,
352723,Attenuated Chédiak-Higashi syndrome,C4304022,Attenuated Chédiak-Higashi syndrome,,
352731,Oculocutaneous albinism type 1,C0268494,Oculocutaneous albinism type 1,,
352737,Temperature-sensitive oculocutaneous albinism type 1,C1847132,"ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",,
352740,Ocular albinism with congenital sensorineural deafness,C1863198,"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",,
352745,Oculocutaneous albinism type 7,C3808786,"ALBINISM, OCULOCUTANEOUS, TYPE VII",,
352763,Scleredema,C0036413,Scleredema Adultorum,,
353,Gamma-sarcoglycan-related  limb-girdle muscular dystrophy R5,C0410173,Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder),,
353220,Familial primary localized cutaneous amyloidosis,C0268398,Familial lichen amyloidosis,,
353253,Burning mouth syndrome,C0006430,Burning Mouth Syndrome,,
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,C3150941,RUBINSTEIN-TAYBI SYNDROME 2,,
353298,Roifman syndrome,C1846059,Roifman syndrome,,
354,GM1 gangliosidosis,C0085131,Gangliosidosis GM1,E00-E90,"Endocrine, nutritional and metabolic diseases"
354,GM1 gangliosidosis,C0268271,"Gangliosidosis, Generalized GM1, Type 1 (disorder)",,
354,GM1 gangliosidosis,C2718068,beta-Galactosidase Deficiency,,
355,Gaucher disease,C0017205,Gaucher Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
356,Gerstmann-Straussler-Scheinker syndrome,C0017495,Gerstmann-Straussler-Scheinker Disease,A00-B99,Certain infectious and parasitic diseases
356,Gerstmann-Straussler-Scheinker syndrome,C2931022,"Amyloidosis, Cerebral, with Spongiform Encephalopathy",,
356,Gerstmann-Straussler-Scheinker syndrome,C3805618,"CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",,
35612,Nanophthalmos,C0026010,Microphthalmos,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
35656,Coenzyme Q10 deficiency,C1843920,COENZYME Q10 DEFICIENCY,,
35664,ALDH18A1-related De Barsy syndrome,C0268354,De Barsy syndrome,,
35687,Erdheim-Chester disease,C0878675,Erdheim-Chester Disease,,
35689,Primary lateral sclerosis,C0154682,Lateral Sclerosis,G00-G99,Diseases of the nervous system
35689,Primary lateral sclerosis,C1968845,"Primary Lateral Sclerosis, Adult, 1",,
356961,SLC35A2-CDG,C3806688,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm",,
356978,"D,L-2-hydroxyglutaric aciduria",C2746066,Combined D-2- and L-2-hydroxyglutaric aciduria,,
35698,Mitochondrial DNA depletion syndrome,C0342782,Depletion of mitochondrial DNA,,
356996,ANK3-related intellectual disability-sleep disturbance syndrome,C3809672,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37",,
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,C2751532,3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency,,
357027,Hereditary retinoblastoma,C0751483,Familial Retinoblastoma,,
35704,L-Arginine:glycine amidinotransferase deficiency,C2675179,Arginine:Glycine Amidinotransferase Deficiency,,
357043,Amyotrophic lateral sclerosis type 4,C1865409,"Amyotrophic Lateral Sclerosis 4, Juvenile",,
35706,Glutaric acidemia type 3,C0342873,Glutaric Aciduria III,,
35708,Aromatic L-amino acid decarboxylase deficiency,C0342686,Aromatic amino acid decarboxylase deficiency,,
35708,Aromatic L-amino acid decarboxylase deficiency,C1291564,Deficiency of aromatic-L-amino-acid decarboxylase,,
35710,Glucose-galactose malabsorption,C0268186,Congenital glucose-galactose malabsorption,E00-E90,"Endocrine, nutritional and metabolic diseases"
357154,Oral submucous fibrosis,C0029172,Oral Submucous Fibrosis,K00-K93,Diseases of the digestive system
357237,Severe combined immunodeficiency due to CARD11 deficiency,C3554686,IMMUNODEFICIENCY 11,,
357329,Combined immunodeficiency due to IL21R deficiency,C3554687,IL21R IMMUNODEFICIENCY,,
35737,Morning glory disc anomaly,C0549307,Morning glory syndrome,,
357502,Idiopathic nephrotic syndrome,C3496337,Idiopathic Nephrotic Syndrome,,
358,Gitelman syndrome,C0268450,Gitelman Syndrome,,
35858,Imerslund-Gräsbeck syndrome,C1306856,Megaloblastic anemia due to inborn errors of metabolism,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
35878,Hyperinsulinism-hyperammonemia syndrome,C1847555,"Hyperinsulinemic hypoglycemia, familial, 6",,
35909,Combined deficiency of factor V and factor VIII,C1856883,"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",,
35981,Polymicrogyria,C0266464,Polymicrogyria,,
36,Acrocallosal syndrome,C0796147,Acrocallosal Syndrome,,
36,Acrocallosal syndrome,C2931760,"Acrocallosal syndrome, Schinzel type",,
36,Acrocallosal syndrome,C3277723,JOUBERT SYNDROME 12,,
36,Acrocallosal syndrome,C3280899,"JOUBERT SYNDROME 12/15, DIGENIC",,
360,Glioblastoma,C0017636,Glioblastoma,,
360,Glioblastoma,C1621958,Glioblastoma Multiforme,,
361,Familial glucocorticoid deficiency,C4049650,Familial Glucocorticoid Deficiency Type 1,,
36204,Intestinal lymphangiectasia,C0024215,"Lymphangiectasis, Intestinal",,
36234,Bacterial toxic-shock syndrome,C0600327,Toxic Shock Syndrome,A00-B99,Certain infectious and parasitic diseases
36236,Staphylococcal scalded skin syndrome,C0038165,Staphylococcal Scalded Skin Syndrome,L00-L99,Diseases of the skin and subcutaneous tissue
36237,Bullous impetigo,C0021100,Bullous impetigo,L00-L99,Diseases of the skin and subcutaneous tissue
36258,Buerger disease,C0040021,Thromboangiitis Obliterans,I00-I99,Diseases of the circulatory system
363396,High myopia-sensorineural deafness syndrome,C3806275,DEAFNESS AND MYOPIA,,
363400,Severe neurodegenerative syndrome with lipodystrophy,C4014700,"ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",,
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,C3809272,LETHAL CONGENITAL CONTRACTURE SYNDROME 5,,
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,C3809008,HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY,,
363417,Temtamy preaxial brachydactyly syndrome,C1854466,Temtamy preaxial brachydactyly syndrome,,
363424,Multiple mitochondrial dysfunctions syndrome type 3,C3809165,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3,,
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,C4015505,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18",,
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,C3150939,BEAULIEU-BOYCOTT-INNES SYNDROME,,
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,C1834690,"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",,
363483,Testicular teratoma,C0238451,Teratoma of testis,,
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,C3809160,SHAHEEN SYNDROME,,
363528,Intellectual disability-strabismus syndrome,C3809039,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36",,
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,C3810242,LEUKOENCEPHALOPATHY WITH ATAXIA,,
36355,Bleeding disorder due to P2Y12 defect,C1853278,Bleeding Disorder Due To P2RY12 Defect,,
363611,Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome,C3809686,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 21",,
363623,GMPPB-related  limb-girdle muscular dystrophy R19,C3714932,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",,
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,C3715192,"ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME",,
363654,X-linked parkinsonism-spasticity syndrome,C3806722,"PARKINSONISM WITH SPASTICITY, X-LINKED",,
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,C1866182,Penttinen-Aula syndrome,,
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,C3554448,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 18",,
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,C3151209,"HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",,
363710,Spinocerebellar ataxia type 37,C3889636,SPINOCEREBELLAR ATAXIA 37,,
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,C3550856,"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",,
36386,Hereditary sensory and autonomic neuropathy type 1,C0020071,"Hereditary Sensory Autonomic Neuropathy, Type 1",,
36387,Generalized epilepsy with febrile seizures-plus,C1858672,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",,
36387,Generalized epilepsy with febrile seizures-plus,C3502809,Generalized Epilepsy with Febrile Seizures Plus,,
36388,Paraneoplastic neurologic syndrome,C0393534,Paraneoplastic Cerebellar Degeneration,,
363958,17q21.31 microdeletion syndrome,C1864871,Chromosome 17q21.31 Deletion Syndrome,,
363981,Charcot-Marie-Tooth disease type 4B3,C3695063,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3",,
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,C2750787,Weill-Marchesani-Like Syndrome,,
363999,Non-immune hydrops fetalis,C0455988,"Hydrops Fetalis, Non-Immune",,
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,C0017920,Glycogen Storage Disease Type I,E00-E90,"Endocrine, nutritional and metabolic diseases"
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,C2919796,Glycogen storage disease type Ia,,
364013,Immune hydrops fetalis,C0455990,Immune Hydrops Fetalis,P00-P96,Certain conditions originating in the perinatal period
364028,X-linked intellectual disability due to GRIA3 mutations,C2678051,"MENTAL RETARDATION, X-LINKED 94 (disorder)",,
364055,Severe early-childhood-onset retinal dystrophy,C1858080,"Retinal Dystrophy, Early Onset Severe",,
36412,Hypocomplementemic urticarial vasculitis,C0343206,Hypocomplementemic urticarial vasculitis,M00-M99,Diseases of the musculoskeletal system and connective tissue
36426,Stevens-Johnson syndrome,C0038325,Stevens-Johnson Syndrome,L00-L99,Diseases of the skin and subcutaneous tissue
365,Glycogen storage disease due to acid maltase deficiency,C0017921,Glycogen storage disease type II,E00-E90,"Endocrine, nutritional and metabolic diseases"
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,C0017922,Glycogen Storage Disease Type III,E00-E90,"Endocrine, nutritional and metabolic diseases"
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,C1968739,Glycogen Storage Disease IIIA,,
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,C1968740,Glycogen Storage Disease IIIB,,
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,C1968741,Glycogen Storage Disease IIIC,,
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,C2936915,"Amylo-1,6-glucosidase deficiency",,
367,Glycogen storage disease due to glycogen branching enzyme deficiency,C0017923,Glycogen Storage Disease Type IV,E00-E90,"Endocrine, nutritional and metabolic diseases"
367,Glycogen storage disease due to glycogen branching enzyme deficiency,C1563715,Andersen Syndrome,,
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,C0017924,Glycogen Storage Disease Type V,E00-E90,"Endocrine, nutritional and metabolic diseases"
36899,Myoclonus-dystonia syndrome,C1834570,Myoclonic dystonia,,
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,C0017925,Glycogen Storage Disease Type VI,E00-E90,"Endocrine, nutritional and metabolic diseases"
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,C3809356,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3,,
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,C3809031,"NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",,
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,C4015172,"SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",,
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,C3809309,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",,
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,C4225208,MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS,,
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",C3809592,MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE),,
369913,Combined oxidative phosphorylation defect type 17,C3809526,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17,,
369920,Pontocerebellar hypoplasia type 9,C4014354,"PONTOCEREBELLAR HYPOPLASIA, TYPE 9",,
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,C3809609,"PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",,
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,C1845408,Contiguous Abcd1-Dxs1375e Deletion Syndrome,,
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,C3806634,"DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",,
369942,CADDS,C1845408,Contiguous Abcd1-Dxs1375e Deletion Syndrome,,
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",C3553915,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",,
369962,"Methylmalonic acidemia with homocystinuria, type cblX",C0796208,"MENTAL RETARDATION, X-LINKED 3",,
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,C3809567,"MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS",,
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,C3809719,"ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",,
37,Acrodermatitis enteropathica,C0221036,Acrodermatitis enteropathica,E00-E90,"Endocrine, nutritional and metabolic diseases"
370,Glycogen storage disease due to phosphorylase kinase deficiency,C0268147,"Glycogen storage disease, type IX",,
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,C4014821,PORETTI-BOLTSHAUSER SYNDROME,,
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,C4511003,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,,
370088,Acute infantile liver failure-multisystemic involvement syndrome,C3809522,INFANTILE LIVER FAILURE SYNDROME 1,,
370091,Oculocutaneous albinism type 5,C3888401,"ALBINISM, OCULOCUTANEOUS, TYPE V",,
370097,Oculocutaneous albinism type 6,C3695272,Oculocutaneous albinism type 6,,
370103,"Primary dystonia, DYT17 type",C2676281,"DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)",,
370334,Extraskeletal Ewing sarcoma,C0279980,Extraosseous Ewings sarcoma-primitive neuroepithelial tumor,,
370348,Peripheral primitive neuroectodermal tumor,C0684337,Ewings sarcoma-primitive neuroectodermal tumor (PNET),,
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,C0342288,Insulin-dependent diabetes mellitus secretory diarrhea syndrome,,
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,C1844663,"ISLETS OF LANGERHANS, ABSENCE OF",,
370921,STT3A-CDG,C3810062,Congenital disorder of glycosylation type 1w,,
370924,STT3B-CDG,C2931007,Congenital disorder of glycosylation type 1X,,
370927,SSR4-CDG,C4012395,Congenital disorder of glycosylation type 1y,,
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,C3809910,"ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES",,
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,C0017926,Glycogen Storage Disease Type VII,E00-E90,"Endocrine, nutritional and metabolic diseases"
37202,Interstitial cystitis,C0282488,Interstitial Cystitis,,
37202,Interstitial cystitis,C0600040,Chronic interstitial cystitis,N00-N99,Diseases of the genitourinary system
37202,Interstitial cystitis,C1720830,Painful Bladder Syndrome,,
37202,Interstitial cystitis,C3160917,Bladder pain syndrome,,
373,Simpson-Golabi-Behmel syndrome,C0796154,"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1",,
375,Anti-glomerular basement membrane disease,C0403529,Anti-Glomerular Basement Membrane Disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
37553,Andersen-Tawil syndrome,C1563715,Andersen Syndrome,,
376,Gordon syndrome,C0220666,"ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",,
37612,Episodic ataxia type 1,C0242287,Isaacs syndrome,,
37612,Episodic ataxia type 1,C1719788,Episodic ataxia type 1,,
37612,Episodic ataxia type 1,C1834559,"Continuous Muscle Fiber Activity, Hereditary",,
37612,Episodic ataxia type 1,C2674766,Myokymia 1,,
377,Gorlin syndrome,C0004779,Basal Cell Nevus Syndrome,,
377,Gorlin syndrome,C0812437,Oculo-dento-digital syndrome,,
37748,Schnitzler syndrome,C0524988,Schnitzler Syndrome,,
379,Chronic granulomatous disease,C0018203,Chronic granulomatous disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
38,Acrokeratoelastoidosis of Costa,C0545044,Acrokeratoelastoidosis of Costa,,
380,Greig cephalopolysyndactyly syndrome,C0265306,Greig cephalopolysyndactyly syndrome,,
381,Griscelli syndrome,C0398794,Hypopigmentation-immunodeficiency disease,,
382,Guanidinoacetate methyltransferase deficiency,C0574080,Guanidinoacetate methyltransferase deficiency,,
385,Neurodegeneration with brain iron accumulation,C2931845,Neurodegeneration with brain iron accumulation (NBIA),,
388,Hirschsprung disease,C0019569,Hirschsprung Disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
388,Hirschsprung disease,C3661523,Congenital Intestinal Aganglionosis,,
38874,Dihydropyrimidinuria,C0342803,Dihydropyrimidinase deficiency,,
38874,Dihydropyrimidinuria,C3495551,Dihydropyrimidinuria,,
389,Langerhans cell histiocytosis,C0019621,"Histiocytosis, Langerhans-Cell",C00-D48,Neoplasms
39041,Omenn syndrome,C2700553,Omenn Syndrome,,
39041,Omenn syndrome,C2931884,"Reticuloendotheliosis, familial, with eosinophilia",,
39044,Uveal melanoma,C0220633,Uveal melanoma,,
39044,Uveal melanoma,C0346373,Malignant melanoma of iris,,
39044,Uveal melanoma,C0346388,Malignant melanoma of choroid,,
391,Classic Hodgkin lymphoma,C0019829,Hodgkin Disease,C00-D48,Neoplasms
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,C3809853,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39",,
391320,East Texas bleeding disorder,C1853831,"Bleeding Disorder, East Texas Type",,
391327,X-linked calvarial hyperostosis,C1863351,Calvarial hyperostosis,,
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,C3810001,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18,,
391351,SURF1-related Charcot-Marie-Tooth disease type 4,C4225246,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K",,
391372,Intellectual disability-severe speech delay-mild dysmorphism syndrome,C4013764,MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES,,
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,C3809971,ASPARAGINE SYNTHETASE DEFICIENCY,,
391389,Familial episodic pain syndrome with predominantly upper body involvement,C3808667,"EPISODIC PAIN SYNDROME, FAMILIAL, 1",,
391392,Familial episodic pain syndrome with predominantly lower limb involvement,C3809899,"EPISODIC PAIN SYNDROME, FAMILIAL, 3",,
391397,Hereditary sensory and autonomic neuropathy type 7,C3809882,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",,
391411,Atypical juvenile parkinsonism,C4510873,Atypical juvenile parkinsonism,,
391417,HSD10 disease,C3266731,2-methyl-3-hydroxybutyric aciduria,,
391474,Frontorhiny,C1876203,Frontonasal dysplasia,,
391487,Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,C3279990,"CANDIDIASIS, FAMILIAL, 7",,
391641,Feingold syndrome type 1,C0796068,Oculodigitoesophagoduodenal syndrome,,
391646,Feingold syndrome type 2,C3280489,FEINGOLD SYNDROME 2,,
391665,Homozygous familial hypercholesterolemia,C0342881,Familial hypercholesterolemia - homozygous,,
391673,Necrotizing enterocolitis,C0520459,Necrotizing Enterocolitis,K00-K93,Diseases of the digestive system
391673,Necrotizing enterocolitis,C4082937,Necrotizing enterocolitis in fetus OR newborn,,
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,C3541319,"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",,
392,Holt-Oram syndrome,C0265264,Holt-Oram syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
393,"46,XX testicular disorder of sex development",C0432475,XX males,,
393,"46,XX testicular disorder of sex development",C2748895,Ovotesticular Disorders of Sex Development,,
393,"46,XX testicular disorder of sex development",C2936419,"46, XX Testicular Disorders of Sex Development",,
394,Classic homocystinuria,C0751202,Cystathionine beta-Synthase Deficiency Disease,,
394,Classic homocystinuria,C3150344,"HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",,
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,C1856058,"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",,
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,C1856059,"Mthfr Deficiency, Thermolabile Type",,
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,C1856061,Methylenetetrahydrofolate reductase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
397,Giant cell arteritis,C0039483,Giant Cell Arteritis,,
397,Giant cell arteritis,C1956391,Temporal Arteritis,,
397596,Activated PI3K-delta syndrome,C3714976,ACTIVATED PI3K-DELTA SYNDROME,,
397612,Macrocephaly-developmental delay syndrome,C3810225,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41",,
397615,Obesity due to CEP19 deficiency,C3810324,MORBID OBESITY AND SPERMATOGENIC FAILURE,,
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,C3807873,FOVEAL HYPOPLASIA 2,,
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,C1865361,"SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES",,
397685,Familial hyperprolactinemia,C0020514,Hyperprolactinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,C4225355,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20",,
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,C4518774,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,,
397725,COASY protein-associated neurodegeneration,C3810230,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6,,
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,C4084821,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",,
397744,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,C3280556,"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",,
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,C4015146,RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES,,
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,C3810343,SACRAL AGENESIS WITH VERTEBRAL ANOMALIES,,
397946,Autosomal spastic paraplegia type 58,C1969796,"ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)",,
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,C3810080,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40",,
397959,TCR-alpha-beta-positive T-cell deficiency,C3809332,T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY,,
397964,Combined immunodeficiency due to MALT1 deficiency,C3809583,IMMUNODEFICIENCY 12,,
397968,Charcot-Marie-Tooth disease type 2R,C3809655,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R",,
398043,Malignant tumor of penis,C0153601,Malignant neoplasm of penis,C00-D48,Neoplasms
398043,Malignant tumor of penis,C0853105,Penis carcinoma,,
398058,Squamous cell carcinoma of the penis,C0238348,Squamous cell carcinoma of penis,,
398069,Prader-Willi syndrome due to a point mutation,C3809877,SCHAAF-YANG SYNDROME,,
398073,Prader-Willi-like syndrome,C3809877,SCHAAF-YANG SYNDROME,,
398088,Hereditary cryohydrocytosis with normal stomatin,C1861453,Pseudohyperkalemia Cardiff,,
39812,Graft versus host disease,C0018133,Graft-vs-Host Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
398124,Neonatal lupus erythematosus,C0409979,Neonatal Systemic lupus erythematosus,,
398166,Focal facial dermal dysplasia,C2936827,Focal facial dermal dysplasia,,
398173,Focal facial dermal dysplasia type II,C1744559,Congenital ectodermal dysplasia of face,,
398189,Focal facial dermal dysplasia type IV,C3554246,FOCAL FACIAL DERMAL DYSPLASIA 4,,
398934,Malignant epithelial tumor of ovary,C0677886,Epithelial ovarian cancer,,
398961,Mucinous adenocarcinoma of ovary,C1335167,Ovarian Mucinous Adenocarcinoma,,
398987,Malignant teratoma of ovary,C0346182,Immature teratoma of ovary,,
399,Huntington disease,C0020179,Huntington Disease,G00-G99,Diseases of the nervous system
399058,Alpha-B crystallin-related late-onset myopathy,C1837317,Alpha-B Crystallinopathy,,
399096,Distal anoctaminopathy,C2750076,Miyoshi Muscular Dystrophy 3,,
40,"Acromesomelic dysplasia, Maroteaux type",C1864356,"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",,
40,"Acromesomelic dysplasia, Maroteaux type",C2930970,Acromesomelic dysplasia Hunter-Thompson type,,
400,Cystic echinococcosis,C0013502,Echinococcosis,A00-B99,Certain infectious and parasitic diseases
401764,Pancytopenia-developmental delay syndrome,C3810350,Bone marrow failure syndrome 2,,
401768,Proximal myopathy with extrapyramidal signs,C3810285,MYOPATHY WITH EXTRAPYRAMIDAL SIGNS,,
401777,Optic atrophy-intellectual disability syndrome,C3810363,BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME,,
401780,Autosomal recessive spastic paraplegia type 61,C3810294,"SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE",,
401785,Autosomal recessive spastic paraplegia type 62,C4284588,"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE",,
401805,Autosomal recessive spastic paraplegia type 63,C3810295,"SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",,
401810,Autosomal recessive spastic paraplegia type 64,C3810289,"SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE",,
401849,Autosomal spastic paraplegia type 72,C3810160,"SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",,
401849,Autosomal spastic paraplegia type 72,C3810161,"SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",,
401859,Lipoic acid synthetase deficiency,C3280887,"HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES",,
401862,Lipoyl transferase 1 deficiency,C4225379,LIPOYLTRANSFERASE 1 DEFICIENCY,,
401866,Childhood-onset spasticity with hyperglycinemia,C4225178,"SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",,
401869,Multiple mitochondrial dysfunctions syndrome type 1,C3276432,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1,,
401874,Multiple mitochondrial dysfunctions syndrome type 2,C3280378,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA,,
401920,Fibrolamellar hepatocellular carcinoma,C0334287,Fibrolamellar Hepatocellular Carcinoma,,
401945,Moyamoya disease with early-onset achalasia,C3810403,MOYAMOYA DISEASE 6 WITH ACHALASIA,,
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,C3810404,"CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO",,
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,C4013360,"GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",,
401973,MEND syndrome,C4085243,MEND SYNDROME,,
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",C2750075,"Chondrodysplasia, Megarbane-Dagher-Melki Type",,
401996,Karyomegalic interstitial nephritis,C3553774,"INTERSTITIAL NEPHRITIS, KARYOMEGALIC",,
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,C3810394,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE",,
402035,Eosinophilic colitis,C0267448,Eosinophilic colitis,K00-K93,Diseases of the digestive system
402041,Autosomal recessive distal renal tubular acidosis,C1864498,"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",,
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,C3150921,"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY",,
402823,Hepatitis delta,C0011226,Hepatitis D Infection,,
403,Familial hyperaldosteronism type I,C1260386,Glucocorticoid-remediable aldosteronism,E00-E90,"Endocrine, nutritional and metabolic diseases"
404,Familial hyperaldosteronism type II,C1854107,"Hyperaldosteronism, Familial, Type II",,
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,C4014239,"MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY",,
404440,Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,C3810406,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 23",,
404443,Tall stature-intellectual disability-facial dysmorphism syndrome,C4014545,TATTON-BROWN-RAHMAN SYNDROME,,
404448,ADNP syndrome,C4014538,HELSMOORTEL-VAN DER AA SYNDROME,,
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,C3808991,NGLY1 deficiency,,
404463,Multisystemic smooth muscle dysfunction syndrome,C3151201,MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME,,
404466,Female infertility due to zona pellucida defect,C4014291,OOCYTE MATURATION DEFECT 1,,
404466,Female infertility due to zona pellucida defect,C4540205,OOCYTE MATURATION DEFECT 3,,
404473,Severe intellectual disability-progressive spastic diplegia syndrome,C3554449,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",,
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,C4310780,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23",,
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,C3810326,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15",,
404507,Chondromyxoid fibroma,C0221290,Chondromyxoid fibroma,,
404546,DITRA,C0343055,Generalized pustular psoriasis,L00-L99,Diseases of the skin and subcutaneous tissue
404553,Vasculitis due to ADA2 deficiency,C3887654,"POLYARTERITIS NODOSA, CHILDHOOD-ONSET",,
404560,Familial atypical multiple mole melanoma syndrome,C0013403,Dysplastic Nevus Syndrome,,
404560,Familial atypical multiple mole melanoma syndrome,C0205747,Familial Atypical Multiple Mole-Melanoma,,
404560,Familial atypical multiple mole melanoma syndrome,C1838547,MELANOMA-PANCREATIC CANCER SYNDROME,,
404560,Familial atypical multiple mole melanoma syndrome,C2314896,Familial Atypical Mole Melanoma Syndrome,,
405,Familial hypocalciuric hypercalcemia,C1809471,Familial benign hypercalcemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
407,Glycine encephalopathy,C0268560,"Hyperglycinemia, Transient Neonatal",,
407,Glycine encephalopathy,C0751748,Nonketotic Hyperglycinemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
408,Isolated glycerol kinase deficiency,C0268418,Deficiency of glycerol kinase,,
409,Hyperkeratosis lenticularis perstans,C0263420,Hyperkeratosis lenticularis perstans,,
40923,Eales disease,C0271073,Eales disease,H00-H59,Diseases of the eye and adnexa
41,Dyschromatosis symmetrica hereditaria,C0406775,Symmetrical dyschromatosis of extremities,,
411493,Pontocerebellar hypoplasia type 10,C4014347,"PONTOCEREBELLAR HYPOPLASIA, TYPE 10",,
411527,Central retinal vein occlusion,C0154841,Central retinal vein occlusion,H00-H59,Diseases of the eye and adnexa
411629,Nephropathic infantile cystinosis,C3537440,"Cystinosis, Infantile Nephropathic",,
411634,Juvenile nephropathic cystinosis,C0268626,Juvenile nephropathic cystinosis (disorder),,
411641,Ocular cystinosis,C2931013,"Cystinosis, benign, nonnephropathic",,
411709,Renal agenesis,C0542519,Congenital absence of kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
411709,Renal agenesis,C1609433,Congenital absence of kidneys syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
411709,Renal agenesis,C1619700,RENAL ADYSPLASIA,,
411712,Maternal riboflavin deficiency,C0035528,Riboflavin Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,C4014492,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23",,
412,Dysbetalipoproteinemia,C0020479,Hyperlipoproteinemia Type III,,
412,Dysbetalipoproteinemia,C1862591,"CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO",,
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,C1832167,"Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism",,
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,C4014261,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16",,
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,C4014419,XIA-GIBBS SYNDROME,,
412181,Epidermolysis bullosa simplex due to BP230 deficiency,C3809470,"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",,
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,C3554367,"EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE",,
414,Gyrate atrophy of choroid and retina,C0018425,Gyrate Atrophy,,
414,Gyrate atrophy of choroid and retina,C0599035,Hyperornithinemia,,
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,C0268540,HHH syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
415286,Bilirubin encephalopathy,C0022610,Kernicterus,P00-P96,Certain conditions originating in the perinatal period
416,Primary hyperoxaluria,C0020500,Hyperoxaluria,E00-E90,"Endocrine, nutritional and metabolic diseases"
416,Primary hyperoxaluria,C0020500,Hyperoxaluria,R00-R99,"Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"
416,Primary hyperoxaluria,C0020501,Primary Hyperoxaluria,E00-E90,"Endocrine, nutritional and metabolic diseases"
417,Neonatal severe primary hyperparathyroidism,C1832615,"HYPERPARATHYROIDISM, NEONATAL SEVERE",,
41751,Bietti crystalline dystrophy,C1859486,BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY,,
418,Congenital adrenal hyperplasia,C0001627,Congenital adrenal hyperplasia,E00-E90,"Endocrine, nutritional and metabolic diseases"
418959,Squamous cell carcinoma of the stomach,C1333789,Gastric Squamous Cell Carcinoma,,
419,Hyperprolinemia type 1,C0268529,Proline dehydrogenase deficiency,,
42,Medium chain acyl-CoA dehydrogenase deficiency,C0220710,Medium-chain acyl-coenzyme A dehydrogenase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
420179,Malan overgrowth syndrome,C3553660,SOTOS SYNDROME 2,,
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",C3888925,Pompe\'s disease adult onset,,
420492,"Adult-onset cervical dystonia, DYT23 type",C3538999,DYSTONIA 23,,
420561,Temple-Baraitser syndrome,C2678486,Temple-Baraitser Syndrome,,
420566,Bleeding disorder due to CalDAG-GEFI deficiency,C4014584,"BLEEDING DISORDER, PLATELET-TYPE, 18",,
420573,Severe combined immunodeficiency due to CTPS1 deficiency,C4014617,IMMUNODEFICIENCY 24,,
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,C4014479,CULLER-JONES SYNDROME,,
42062,Iminoglycinuria,C0268654,Iminoglycinuria,,
420686,Woolly hair-palmoplantar keratoderma syndrome,C4015202,PALMOPLANTAR KERATODERMA AND WOOLLY HAIR,,
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,C4310764,"NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",,
420728,Combined oxidative phosphorylation defect type 20,C4014660,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20,,
420733,Combined oxidative phosphorylation defect type 21,C4014668,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21,,
420741,RIDDLE syndrome,C2677792,Riddle Syndrome,,
422,Idiopathic/heritable pulmonary arterial hypertension,C0152171,Idiopathic pulmonary hypertension,I00-I99,Diseases of the circulatory system
422,Idiopathic/heritable pulmonary arterial hypertension,C1969342,"PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",,
422,Idiopathic/heritable pulmonary arterial hypertension,C1969343,"Pulmonary Hypertension, Primary, Fenfluramine-Associated",,
422,Idiopathic/heritable pulmonary arterial hypertension,C3203102,Idiopathic pulmonary arterial hypertension,I00-I99,Diseases of the circulatory system
422,Idiopathic/heritable pulmonary arterial hypertension,C3714844,"Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",,
422526,Hereditary clear cell renal cell carcinoma,C1333985,Hereditary Clear Cell Renal Cell Carcinoma,,
423,Malignant hyperthermia of anesthesia,C0024591,Malignant hyperpyrexia due to anesthesia,S00-T98,"Injury, poisoning and certain other consequences of external causes"
423,Malignant hyperthermia of anesthesia,C1840365,King Denborough syndrome,,
423,Malignant hyperthermia of anesthesia,C2930980,Malignant hyperthermia susceptibility type 1,,
423384,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,C4014954,"NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE",,
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,C4014987,ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME,,
423461,Mucolipidosis type III alpha/beta,C0033788,Pseudo-Hurler Polydystrophy,,
423461,Mucolipidosis type III alpha/beta,C2673375,"Mucolipidosis III Alpha Beta, Atypical",,
423470,Mucolipidosis type III gamma,C1854896,Mucolipidosis III Gamma,,
424,Familial hyperthyroidism due to mutations in TSH receptor,C1836706,"Hyperthyroidism, Nonautoimmune",,
424027,Progressive myoclonic epilepsy type 8,C4015619,"EPILEPSY, PROGRESSIVE MYOCLONIC, 8",,
424046,Acinar cell carcinoma of pancreas,C0279661,Acinar cell carcinoma of pancreas,,
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,C4014540,MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME,,
424261,Autosomal recessive limb-girdle muscular dystrophy type 2Y,C4310731,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y",,
424982,Biliary cystadenocarcinoma,C0334286,Bile duct cystadenocarcinoma,,
425,Apolipoprotein A-I deficiency,C0342898,Apolipoprotein A-I deficiency,,
425,Apolipoprotein A-I deficiency,C0473527,Hypoalphalipoproteinemias,E00-E90,"Endocrine, nutritional and metabolic diseases"
425,Apolipoprotein A-I deficiency,C1704429,"Hypoalphalipoproteinemia, Familial",,
425,Apolipoprotein A-I deficiency,C2931838,Familial HDL deficiency,,
425120,STING-associated vasculopathy with onset in infancy,C4014722,"STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",,
42665,Tietz syndrome,C0391816,Tietz syndrome,,
42738,Severe congenital neutropenia,C1853118,Severe congenital neutropenia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
428,Autosomal dominant hypocalcemia,C3715128,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",,
428,Autosomal dominant hypocalcemia,C4048195,Autosomal dominant hypocalcemia,,
429,Hypochondroplasia,C0410529,Hypochondroplasia (disorder),Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
43,X-linked adrenoleukodystrophy,C0162309,Adrenoleukodystrophy,E00-E90,"Endocrine, nutritional and metabolic diseases"
43,X-linked adrenoleukodystrophy,C1527231,Adrenomyeloneuropathy,E00-E90,"Endocrine, nutritional and metabolic diseases"
431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,C3806742,"MICROPHTHALMIA, SYNDROMIC 13",,
431149,Combined immunodeficiency due to OX40 deficiency,C3810053,IMMUNODEFICIENCY 16,,
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,C1850718,"MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE",,
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,C4225252,IMMUNODEFICIENCY 45,,
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,C4225260,IMMUNODEFICIENCY 44,,
431255,Scapuloperoneal spinal muscular atrophy,C0751335,Scapuloperoneal Form of Spinal Muscular Atrophy,G00-G99,Diseases of the nervous system
431272,X-linked scapuloperoneal muscular dystrophy,C2678061,"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",,
431329,Autosomal recessive spastic paraplegia type 57,C3714897,"SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",,
431341,Patent urachus,C0266357,Persistent umbilical sinus,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,C1857252,"2,4-Dienoyl-CoA Reductase Deficiency",,
43393,Lambert-Eaton myasthenic syndrome,C0022972,Lambert-Eaton Myasthenic Syndrome,G00-G99,Diseases of the nervous system
434179,Orofaciodigital syndrome type 14,C4014780,OROFACIODIGITAL SYNDROME XIV,,
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,C4225244,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",,
435438,Progressive myoclonic epilepsy type 7,C4015420,"EPILEPSY, PROGRESSIVE MYOCLONIC 7",,
435628,Keppen-Lubinsky syndrome,C3279800,KEPPEN-LUBINSKY SYNDROME,,
435651,CIDEC-related familial partial lipodystrophy,C3808940,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5",,
435660,LIPE-related familial partial lipodystrophy,C4014869,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6",,
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,C3665488,Familial Osteochondritis Dissecans,,
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,C3281029,"RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL",,
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,C4225424,OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY,,
435934,COG2-CDG,C4479353,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq",,
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,C4015461,RUIJS-AALFS SYNDROME,,
435988,Chronic atrial and intestinal dysrhythmia syndrome,C4015474,Chronic atrial and intestinal dysrhythmia,,
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,C4015029,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D",,
436,Hypophosphatasia,C0020630,Hypophosphatasia,E00-E90,"Endocrine, nutritional and metabolic diseases"
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,C4015214,CTLA4 Haploinsufficiency,,
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,C4015067,AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS,,
436169,Thrombomodulin-related bleeding disorder,C3280976,Thrombophilia due to Thrombomodulin Defect,,
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,C4014942,"CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA",,
436242,Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,C4015285,CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY,,
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,C4015242,"RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME",,
437,Hypophosphatemic rickets,C1704375,Hypophosphatemic Rickets,,
437,Hypophosphatemic rickets,C2363065,Vitamin D-resistant rickets,E00-E90,"Endocrine, nutritional and metabolic diseases"
437,Hypophosphatemic rickets,C3536983,Familial Hypophosphatemic Rickets,,
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,C3810342,IMMUNODEFICIENCY 20,,
437572,MYH7-related late-onset scapuloperoneal muscular dystrophy,C0751337,X-Linked Emery-Dreifuss Muscular Dystrophy,G00-G99,Diseases of the nervous system
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,C4015186,MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY,,
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,C4015323,"LEUKODYSTROPHY, HYPOMYELINATING, 9",,
438117,Steel syndrome,C3554594,STEEL SYNDROME,,
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,C4014676,ATAXIA-TELANGIECTASIA-LIKE DISORDER 2,,
438159,STAT3-related early-onset multisystem autoimmune disease,C4014795,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",,
438178,Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency,C4015344,PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER,,
438207,Severe autosomal recessive macrothrombocytopenia,C4015405,"BLEEDING DISORDER, PLATELET-TYPE, 19",,
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,C4015357,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 31",,
438266,Progressive encephalomyelitis with rigidity and myoclonus,C1861457,PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY,,
439,Isolated right ventricular hypoplasia,C1848587,Isolated hypoplasia of the right ventricle,,
439167,Placental insufficiency,C0032051,Placental Insufficiency,,
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,C3280679,"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",,
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,C3541476,"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",,
439218,KCNQ2-related epileptic encephalopathy,C3150986,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7",,
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,C1849813,"Glycogen Storage Disease of Heart, Lethal Congenital",,
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,C4015701,MECKEL SYNDROME 12,,
44,Neonatal adrenoleukodystrophy,C0282525,"Adrenoleukodystrophy, Neonatal",E00-E90,"Endocrine, nutritional and metabolic diseases"
44,Neonatal adrenoleukodystrophy,C0282528,Peroxisomal Disorders,E00-E90,"Endocrine, nutritional and metabolic diseases"
440706,Ribose-5-P isomerase deficiency,C1291609,Ribose 5-Phosphate Isomerase Deficiency,,
440713,Isolated sedoheptulokinase deficiency,C1291373,Deficiency of sedoheptulokinase,,
440731,L-ferritin deficiency,C3810090,L-FERRITIN DEFICIENCY,,
441,Pure autonomic failure,C0393911,Pure Autonomic Failure,,
442,Congenital hypothyroidism,C0010308,Congenital Hypothyroidism,E00-E90,"Endocrine, nutritional and metabolic diseases"
443073,Charcot-Marie-Tooth disease type 2S,C4015349,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",,
443087,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",C1839840,"MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE",,
443098,Hyperostosis cranialis interna,C1840404,Hyperostosis Cranialis Interna,,
443162,NDE1-related microhydranencephaly,C1857977,MICROHYDRANENCEPHALY,,
443197,X-linked erythropoietic protoporphyria,C2677889,"Protoporphyria, Erythropoietic, X-Linked Dominant",,
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,C0026267,Mitral Valve Prolapse Syndrome,,
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,C0027821,Neurocirculatory Asthenia,,
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,C1535893,Orthostatic intolerance,,
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,C2930833,Irritable heart,,
443811,PGM3-CDG,C4014371,IMMUNODEFICIENCY 23,,
443988,Ventriculomegaly-cystic kidney disease,C1857423,Cystic Kidney Disease with Ventriculomegaly,,
443995,Mandibulofacial dysostosis with alopecia,C4225349,MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA,,
444,Marie Unna hereditary hypotrichosis,C2931059,Marie Unna congenital hypotrichosis,,
444013,Combined oxidative phosphorylation defect type 23,C4015447,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23,,
444048,"46,XX ovarian dysgenesis-short stature syndrome",C4015409,OVARIAN DYSGENESIS 4,,
444072,Cerebellar-facial-dental syndrome,C4015495,CEREBELLOFACIODENTAL SYNDROME,,
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,C4085597,CHOPS SYNDROME,,
444092,Autoimmune interstitial lung disease-arthritis syndrome,C4225334,"AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE",,
444099,Autosomal dominant spastic paraplegia type 73,C4225387,"SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT",,
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,C4225381,"PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",,
444458,Combined oxidative phosphorylation defect type 24,C4015643,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24,,
445018,Combined immunodeficiency due to LRBA deficiency,C3553512,"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY",,
445038,3-methylglutaconic aciduria type 7,C4225393,"3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA",,
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,C4015436,"ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS",,
445110,Limb-girdle muscular dystrophy due to POMK deficiency,C4015184,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",,
446,Neonatal hemochromatosis,C0268059,Neonatal hemochromatosis,P00-P96,Certain conditions originating in the perinatal period
447,Paroxysmal nocturnal hemoglobinuria,C0019050,"Hemoglobinuria, Paroxysmal",,
447,Paroxysmal nocturnal hemoglobinuria,C0024790,Paroxysmal nocturnal hemoglobinuria,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
447,Paroxysmal nocturnal hemoglobinuria,C3806670,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1,,
447737,DOCK2 deficiency,C4225328,IMMUNODEFICIENCY 40,,
447753,Autosomal dominant spastic paraplegia type 9A,C1832669,"SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",,
447760,Autosomal recessive spastic paraplegia type 9B,C4225272,"SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",,
447784,Mitochondrial pyruvate carrier deficiency,C3553607,MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY,,
447788,Cerebral visual impairment,C3810365,Central visual impairment,,
447788,Cerebral visual impairment,C4048268,Cortical visual impairment,,
447954,Combined oxidative phosphorylation defect type 25,C4225329,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25,,
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,C4225306,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",,
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,C4225285,"KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM",,
447977,Progressive scapulohumeroperoneal distal myopathy,C4225181,"MYOPATHY, SCAPULOHUMEROPERONEAL",,
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,C4225254,"SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY",,
448,Hemophilia,C0684275,"Hemophilia, NOS",,
448010,CAD-CDG,C4225320,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",,
448251,Progressive autosomal recessive ataxia-deafness syndrome,C4225383,LICHTENSTEIN-KNORR SYNDROME,,
44890,Gastrointestinal stromal tumor,C0238198,Gastrointestinal Stromal Tumors,C00-D48,Neoplasms
44890,Gastrointestinal stromal tumor,C3179349,Gastrointestinal Stromal Sarcoma,,
449,Hepatoblastoma,C0206624,Hepatoblastoma,C00-D48,Neoplasms
449266,Pleural empyema,C0014013,"Empyema, Pleural",J00-J99,Diseases of the respiratory system
45,Adenosine monophosphate deaminase deficiency,C0268123,Muscle AMP deaminase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
45,Adenosine monophosphate deaminase deficiency,C2752073,Erythrocyte Amp Deaminase Deficiency,,
45,Adenosine monophosphate deaminase deficiency,C2931781,Adenosine monophosphate deaminase deficiency,,
450,Heterotaxia,C0266642,Situs ambiguus,,
450,Heterotaxia,C3178805,Heterotaxy Syndrome,,
451612,Familial congenital nasolacrimal duct obstruction,C1281931,Obstruction of nasolacrimal duct,,
451612,Familial congenital nasolacrimal duct obstruction,C1835612,LACRIMAL DUCT DEFECT,,
451612,Familial congenital nasolacrimal duct obstruction,C1867060,"Lacrimal Puncta, Absence of",,
452,X-linked lissencephaly with abnormal genitalia,C1846171,"Lissencephaly, X-Linked, 2",,
452,X-linked lissencephaly with abnormal genitalia,C1846172,Hydranencephaly and Abnormal Genitalia,,
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,C4225274,AU-KLINE SYNDROME,,
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,C4015301,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17",,
453533,Polyendocrine-polyneuropathy syndrome,C4015261,POLYENDOCRINE-POLYNEUROPATHY SYNDROME,,
45358,Congenital fibrosis of extraocular muscles,C1302995,Congenital Fibrosis of the Extraocular Muscles,,
45358,Congenital fibrosis of extraocular muscles,C1851102,"Fibrosis Of Extraocular Muscles, Congenital, 1",,
45358,Congenital fibrosis of extraocular muscles,C2751105,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",,
45448,Miyoshi myopathy,C1850808,Miyoshi myopathy,,
454714,Plasma cell leukemia,C0023484,"Leukemia, Plasma Cell",C00-D48,Neoplasms
454723,Endometrioid carcinoma of ovary,C0346163,Endometrioid carcinoma ovary,,
454745,Kuru,C0022802,Kuru,A00-B99,Certain infectious and parasitic diseases
454750,Isolated tracheoesophageal fistula,C0040588,Tracheoesophageal Fistula,,
454821,Pleomorphic salivary gland adenoma,C1519176,Salivary Gland Pleomorphic Adenoma,,
455,Superficial epidermolytic ichthyosis,C0432306,Ichthyosis Bullosa of Siemens,,
455,Superficial epidermolytic ichthyosis,C1838440,ICHTHYOSIS EXFOLIATIVA,,
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,C4015728,"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET",,
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,C3279885,Hereditary Sensory and Autonomic Neuropathy Type Ie,,
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,C1846169,Myotubular Myopathy with Abnormal Genital Development,,
456369,Polyglucosan body myopathy type 2,C4015452,POLYGLUCOSAN BODY MYOPATHY 2,,
457,Harlequin ichthyosis,C0239849,Harlequin Fetus,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
457,Harlequin ichthyosis,C0598226,Harlequin type ichthyosis,,
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,C4015513,"MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",,
457095,Actinomycosis,C0001261,Actinomycosis,A00-B99,Certain infectious and parasitic diseases
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,C4225392,"COENZYME Q10 DEFICIENCY, PRIMARY, 7",,
457193,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,C4225396,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 32",,
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,C4225395,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48",,
457240,X-linked intellectual disability-short stature-overweight syndrome,C0796218,"MENTAL RETARDATION, X-LINKED 12",,
457240,X-linked intellectual disability-short stature-overweight syndrome,C0796242,"MENTAL RETARDATION, X-LINKED 35",,
457265,Progressive myoclonic epilepsy type 9,C4225289,"EPILEPSY, PROGRESSIVE MYOCLONIC, 9",,
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,C4225354,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 35",,
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,C4225352,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 36",,
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,C4225276,"EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME",,
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,C4225256,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",,
457378,Complex lethal osteochondrodysplasia,C4225162,"OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE",,
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,C4225232,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE",,
457406,Multiple mitochondrial dysfunctions syndrome type 4,C4225348,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4,,
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,C4225259,SMITH-KINGSMORE SYNDROME,,
458798,Spinocerebellar ataxia type 41,C4225158,SPINOCEREBELLAR ATAXIA 41,,
458803,Spinocerebellar ataxia type 42,C4225205,SPINOCEREBELLAR ATAXIA 42,,
459033,Ataxia-oculomotor apraxia type 4,C4225397,ATAXIA-OCULOMOTOR APRAXIA 4,,
459051,"Spondyloepiphyseal dysplasia, Stanescu type",C4225273,"SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",,
459056,Autosomal recessive spastic paraplegia type 75,C4225250,"SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",,
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,C4310801,"DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR",,
46,Adenylosuccinate lyase deficiency,C0268126,Adenylosuccinate lyase deficiency (disorder),,
46059,Lathosterolosis,C1846421,Lathosterolosis,,
461,Recessive X-linked ichthyosis,C0079588,"Ichthyosis, X-Linked",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
461,Recessive X-linked ichthyosis,C2717836,Steroid Sulfatase Deficiency Disease,,
461,Recessive X-linked ichthyosis,C2720163,Placental Steroid Sulfatase Deficiency,,
46135,Primary central nervous system lymphoma,C0240803,Primary cerebral lymphoma,,
46135,Primary central nervous system lymphoma,C0280803,Primary central nervous system lymphoma,,
46348,Paroxysmal extreme pain disorder,C1833661,PAROXYSMAL EXTREME PAIN DISORDER,,
464,Incontinentia pigmenti,C0021171,Bloch Sulzberger syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
464,Incontinentia pigmenti,C0022283,Incontinentia Pigmenti Achromians,,
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,C4225215,SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES,,
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,C4310689,"SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES",,
464306,DYRK1A-related intellectual disability syndrome,C3279839,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 7",,
464366,NEK9-related lethal skeletal dysplasia,C4310760,LETHAL CONGENITAL CONTRACTURE SYNDROME 10,,
464440,"Primary dystonia, DYT27 type",C4225336,DYSTONIA 27,,
464443,COG6-CGD,C3553230,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",,
464724,Fever-associated acute infantile liver failure syndrome,C3809651,INFANTILE LIVER FAILURE SYNDROME 2,,
464738,Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome,C4225323,BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME,,
464760,Familial cavitary optic disc anomaly,C1969063,Cavitary Optic Disc Anomalies,,
46484,Oligodendroglial tumor,C0028945,oligodendroglioma,,
46486,Mucous membrane pemphigoid,C0030804,"Pemphigoid, Benign Mucous Membrane",L00-L99,Diseases of the skin and subcutaneous tissue
46487,Epidermolysis bullosa acquisita,C0079293,Epidermolysis Bullosa Acquisita,L00-L99,Diseases of the skin and subcutaneous tissue
46488,Linear IgA dermatosis,C0406650,Linear IgA Bullous Dermatosis,,
465,Congenital plasminogen activator inhibitor type 1 deficiency,C2750067,Plasminogen Activator Inhibitor-1 Deficiency,,
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,C0019025,Hemoglobin F Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
465824,Fetal encasement syndrome,C3150891,COCOON SYNDROME,,
466,Fatal familial insomnia,C0206042,Fatal Familial Insomnia,A00-B99,Certain infectious and parasitic diseases
46627,Char syndrome,C1868570,CHAR SYNDROME,,
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,C4225193,"CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA",,
466703,TMEM199-CDG,C4225190,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp",,
466718,Martinique crinkled retinal pigment epitheliopathy,C4310713,"MACULAR DYSTROPHY, PATTERNED, 3",,
466722,Autosomal recessive spastic paraplegia type 77,C4310750,"SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",,
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,C4225243,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z",,
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,C4225253,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",,
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,C4225206,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28,,
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,C4225417,"MENTAL RETARDATION, X-LINKED, SYNDROMIC 34",,
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,C4225236,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21",,
466801,Autosomal recessive limb-girdle muscular dystrophy type 2W,C4225192,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",,
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,C4310797,"BLEEDING DISORDER, PLATELET-TYPE, 20",,
466926,Seizures-scoliosis-macrocephaly syndrome,C4225248,"SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",,
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,C4225247,"LEUKODYSTROPHY, HYPOMYELINATING, 12",,
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,C4225239,DESANTO-SHINAWI SYNDROME,,
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,C4225431,CHROMOSOME 10p12-p11 DELETION SYNDROME,,
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,C4225196,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION",,
46724,Cerebral arteriovenous malformation,C0007772,Intracranial Arteriovenous Malformation,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
46724,Cerebral arteriovenous malformation,C0917804,"Arteriovenous Malformations, Cerebral",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,C4310683,"DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",,
468631,Microcephalic primordial dwarfism due to RTTN deficiency,C3553831,"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES",,
468661,Autosomal recessive spastic paraplegia type 74,C4225322,"SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",,
468666,Isolated generalized anhidrosis with normal sweat glands,C1862871,"ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",,
468672,Colobomatous macrophthalmia-microcornea syndrome,C1865286,"MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA",,
468678,Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,C4225351,WHITE-SUTTON SYNDROME,,
468684,CCDC115-CDG,C4225191,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo",,
468699,SLC39A8-CDG,C4225234,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn",,
468717,Rhizomelic chondrodysplasia punctata type 5,C4225237,"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",,
469,Hereditary fructose intolerance,C0016751,Hereditary fructose intolerance syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
47,X-linked agammaglobulinemia,C0221026,X-linked agammaglobulinemia,,
47,X-linked agammaglobulinemia,C0241932,X-linked hypogammaglobulinemia,,
470,Lysinuric protein intolerance,C0268647,Lysinuric Protein Intolerance,,
47045,Familial cold urticaria,C0343068,Familial cold urticaria,M00-M99,Diseases of the musculoskeletal system and connective tissue
47159,Proximal renal tubular acidosis,C0268435,"Renal Tubular Acidosis, Type II",,
474,Jeune syndrome,C0265275,Jeune thoracic dystrophy,,
475,Joubert syndrome,C0431399,Familial aplasia of the vermis,,
476084,Autosomal recessive limb-girdle muscular dystrophy type 2X,C4225199,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X",,
476102,Hereditary pediatric Behçet-like disease,C4225218,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",,
476113,Combined immunodeficiency due to TFRC deficiency,C4225219,IMMUNODEFICIENCY 46,,
47612,Felty syndrome,C0015773,Felty Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,C4310740,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 44",,
477,KID syndrome,C0265336,Senter syndrome,,
477,KID syndrome,C3665333,Keratitis-Ichthyosis-Deafness Syndrome,,
477661,IL21-related infantile inflammatory bowel disease,C4014258,"IMMUNODEFICIENCY, COMMON VARIABLE, 11",,
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,C4225388,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49",,
477684,Combined oxidative phosphorylation defect type 26,C4225290,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26,,
477774,Combined oxidative phosphorylation defect type 27,C4225251,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27,,
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,C4225261,"SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",,
477817,PMP22-RAI1 contiguous gene duplication syndrome,C4225255,YUAN-HAREL-LUPSKI SYNDROME,,
477831,Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome,C4225270,KOSAKI OVERGROWTH SYNDROME,,
477857,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,C4225266,IMMUNODEFICIENCY 42,,
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,C4225229,"CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES",,
478,Kallmann syndrome,C0162809,Kallmann Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
478042,Combined oxidative phosphorylation defect type 30,C4310773,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30,,
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,C4310661,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31,,
478664,Hereditary sensory and autonomic neuropathy type 8,C4225308,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII",,
48,Congenital bilateral absence of vas deferens,C0266444,Congenital absence of vas deferens,,
48,Congenital bilateral absence of vas deferens,C0403814,Congenital bilateral aplasia of vas deferens,,
480,Kearns-Sayre syndrome,C0022541,Kearns-Sayre syndrome,H00-H59,Diseases of the eye and adnexa
480,Kearns-Sayre syndrome,C2931928,Mitochondrial cytopathy,,
480476,Progressive familial intrahepatic cholestasis type 5,C4310747,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5",,
480483,Progressive familial intrahepatic cholestasis type 4,C2931067,"Cholestasis, progressive familial intrahepatic 4",,
480536,MSH3-related attenuated familial adenomatous polyposis,C4310719,FAMILIAL ADENOMATOUS POLYPOSIS 4,,
480682,POGLUT1-related  limb-girdle muscular dystrophy R21,C4310660,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",,
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,C4310789,THROMBOCYTOPENIA 6,,
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,C4225171,"METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION",,
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,C4225416,"MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED",,
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,C4225172,"CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION",,
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,C4225418,"MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",,
481,Kennedy disease,C0393547,Bulbospinal Neuronopathy,,
481,Kennedy disease,C0752353,"Atrophy, Muscular, Spinobulbar",,
481,Kennedy disease,C1839259,"Bulbo-Spinal Atrophy, X-Linked",,
481,Kennedy disease,C2931395,"Bulbospinal neuronopathy, X-linked recessive",,
48104,Pyoderma gangrenosum,C0085652,Pyoderma Gangrenosum,L00-L99,Diseases of the skin and subcutaneous tissue
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,C4225332,"LEUKODYSTROPHY, HYPOMYELINATING, 10",,
481665,USP18 deficiency,C4479376,PSEUDO-TORCH SYNDROME 2,,
482,Kimura disease,C0002989,Epithelioid hemangioma of skin,,
482,Kimura disease,C0033838,Kimura Disease,,
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,C4310754,"MYOPATHY, DISTAL, 5",,
48377,Subcorneal pustular dermatosis,C0600336,Subcorneal pustular dermatosis,L00-L99,Diseases of the skin and subcutaneous tissue
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,C1858726,"Congenital Cataracts, Facial Dysmorphism, And Neuropathy",,
485,Kniest dysplasia,C0265279,Kniest dysplasia,,
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,C4310726,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2,,
486,Autosomal dominant severe congenital neutropenia,C1859966,"Neutropenia, Severe Congenital, Autosomal Dominant 1",,
48652,Monosomy 22q13.3,C1853490,22q13.3 Deletion Syndrome,,
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,C4310736,"MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",,
48686,Primary effusion lymphoma,C1292753,Primary Effusion Lymphoma,C00-D48,Neoplasms
487,Krabbe disease,C0023521,Globoid cell leukodystrophy,E00-E90,"Endocrine, nutritional and metabolic diseases"
487796,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,C4225222,TAKENOUCHI-KOSAKI SYNDROME,,
487825,Pierpont syndrome,C1865644,"Plantar Lipomatosis, Unusual Facies, and Developmental Delay",,
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,C4225189,"MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS",,
48818,Aceruloplasminemia,C0878682,Ceruloplasmin deficiency,,
48818,Aceruloplasminemia,C1858583,"HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",,
48818,Aceruloplasminemia,C2931082,Familial apoceruloplasmin deficiency,,
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,C4225233,RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT,,
488232,Split-foot malformation-mesoaxial polydactyly syndrome,C4225167,SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY,,
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,C4225265,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",,
488594,Autosomal recessive spastic paraplegia type 76,C4310800,"SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",,
488618,Transketolase deficiency,C4310751,"SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",,
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,C4310745,"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55",,
488632,TBCK-related intellectual disability syndrome,C4225161,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3",,
488642,TELO2-related intellectual disability-neurodevelopmental disorder,C4310778,YOU-HOOVER-FONG SYNDROME,,
488647,DDX41-related hematologic malignancy predisposition syndrome,C4225174,"MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO",,
488650,"Distal myopathy, Tateyama type",C3280443,"MYOPATHY, DISTAL, TATEYAMA TYPE",,
48918,Focal myositis,C0751357,"Myositis, Focal",,
49,Penile agenesis,C1387005,Penis agenesis,,
49042,Dentinogenesis imperfecta,C0011436,Dentinogenesis Imperfecta,K00-K93,Diseases of the digestive system
49042,Dentinogenesis imperfecta,C2973527,Dentinogenesis imperfecta without osteogenesis imperfecta,,
493342,Vibratory urticaria,C0157743,Vibratory urticaria,L00-L99,Diseases of the skin and subcutaneous tissue
493342,Vibratory urticaria,C0473546,Vibratory angioedema,,
493342,Vibratory urticaria,C1852146,DERMODISTORTIVE URTICARIA,,
49382,Achromatopsia,C0152200,Achromatopsia,H00-H59,Diseases of the eye and adnexa
49382,Achromatopsia,C1857618,Achromatopsia 2,,
494,Keratoderma hereditarium mutilans,C0265964,Mutilating keratoderma,,
494348,Early-onset familial noncirrhotic portal hypertension,C4310735,"PORTAL HYPERTENSION, NONCIRRHOTIC",,
494433,MIRAGE syndrome,C4284088,MIRAGE SYNDROME,,
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,C4540367,"SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES",,
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,C1852282,"DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",,
494526,Infantile-onset generalized dyskinesia with orofacial involvement,C4310792,"DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",,
494541,Childhood-onset benign chorea with striatal involvement,C4310791,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",,
494547,Squamous cell carcinoma of the hypopharynx,C0280321,Squamous cell carcinoma of the hypopharynx,,
494550,Squamous cell carcinoma of the larynx,C0280324,Laryngeal Squamous Cell Carcinoma,,
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,C4225170,"LEUKODYSTROPHY, HYPOMYELINATING, 13",,
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,C4310671,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM",,
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,C4310711,"MYOPATHY, MYOFIBRILLAR, 7",,
496751,EVEN-plus syndrome,C4225180,EVEN-PLUS SYNDROME,,
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,C4310667,"ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",,
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,C4310677,HAREL-YOON SYNDROME,,
497906,Childhood-onset basal ganglia degeneration syndrome,C4310743,"STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",,
49827,Thiamine-responsive megaloblastic anemia syndrome,C0018818,Ventricular Septal Defects,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
49827,Thiamine-responsive megaloblastic anemia syndrome,C0342287,Thiamine responsive megaloblastic anemia syndrome,,
498497,Short rib-polydactyly syndrome type 5,C3279792,SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY,,
498602,Sugarman brachydactyly,C0406726,Orofaciodigital syndrome 3,,
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,C1969443,Trifunctional Protein Deficiency With Myopathy And Neuropathy,,
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,C3711645,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,,
50,Aicardi syndrome,C0175713,Aicardi\'s syndrome,,
500,Noonan syndrome with multiple lentigines,C0175704,LEOPARD Syndrome,,
500055,16p13.2 microdeletion syndrome,C4225667,CHROMOSOME 16p13.2 DELETION SYNDROME,,
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,C4310614,"AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME",,
500095,Tall stature-intellectual disability-renal anomalies syndrome,C4310715,THAUVIN-ROBINET-FAIVRE SYNDROME,,
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,C1856053,Hydranencephaly with Renal Aplasia-Dysplasia,,
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,C4540059,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY",,
500150,Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,C4310696,ZTTK SYNDROME,,
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,C4540321,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 48",,
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,C4540086,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY",,
500478,Squamous cell carcinoma of the oropharynx,C0280313,Squamous cell carcinoma of oropharynx,,
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,C1970203,"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy",,
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,C4479333,"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION",,
500548,Osteosclerotic metaphyseal dysplasia,C3554665,OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA,,
501,Lafora disease,C0751783,Lafora Disease,,
501,Lafora disease,C1850764,"EPILEPSY, PROGRESSIVE MYOCLONIC 2B",,
502,Trichorhinophalangeal syndrome type 2,C0023003,Langer-Giedion Syndrome,,
502363,Squamous cell carcinoma of the oral cavity,C0585362,Squamous cell carcinoma of mouth,,
502366,Squamous cell carcinoma of the lip,C0280302,Squamous cell carcinoma of lip,,
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,C4540096,"MYOPATHY, MITOCHONDRIAL, AND ATAXIA",,
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,C4539951,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 47",,
502444,Alkaline ceramidase 3 deficiency,C4540358,"LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET",,
50251,Pleural mesothelioma,C0025500,Mesothelioma,C00-D48,Neoplasms
50251,Pleural mesothelioma,C0345967,Malignant mesothelioma,,
50251,Pleural mesothelioma,C0812413,Malignant Pleural Mesothelioma,C00-D48,Neoplasms
50251,Pleural mesothelioma,C1377913,Pleural Mesothelioma,,
503,Larsen syndrome,C0175778,Larsen syndrome,,
503,Larsen syndrome,C2931648,"Larsen syndrome, dominant type",,
504523,Severe combined immunodeficiency due to LAT deficiency,C4479588,IMMUNODEFICIENCY 52,,
504530,Combined immunodeficiency due to Moesin deficiency,C4310812,IMMUNODEFICIENCY 50,,
505216,3-methylglutaconic aciduria type 9,C4540171,"3-METHYLGLUTACONIC ACIDURIA, TYPE IX",,
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,C4479520,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES",,
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,C4539828,BIRK-LANDAU-PEREZ SYNDROME,,
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,C4310627,MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME,,
505652,CDKL5-related epileptic encephalopathy,C1839333,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",,
506,Leigh syndrome,C0023264,Leigh Disease,G00-G99,Diseases of the nervous system
506,Leigh syndrome,C0751267,"Encephalopathy, Subacute Necrotizing, Infantile",,
506,Leigh syndrome,C1838951,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,,
506,Leigh syndrome,C1850597,Leigh Syndrome Due To Mitochondrial Complex II Deficiency,,
506,Leigh syndrome,C1850598,Leigh Syndrome due to Mitochondrial Complex III Deficiency,,
506,Leigh syndrome,C1850599,Leigh Syndrome due to Mitochondrial Complex IV Deficiency,,
506,Leigh syndrome,C1850600,Leigh Syndrome due to Mitochondrial Complex V Deficiency,,
506,Leigh syndrome,C2931891,"Necrotizing encephalopathy, infantile subacute, of Leigh",,
506307,Stromme syndrome,C1855705,Jejunal Atresia with Microcephaly and Ocular Anomalies,,
506358,Gabriele-de Vries syndrome,C4479652,GABRIELE-DE VRIES SYNDROME,,
507,Leishmaniasis,C0023281,Leishmaniasis,A00-B99,Certain infectious and parasitic diseases
508,Leprechaunism,C0265344,Donohue Syndrome,,
508,Leprechaunism,C0271689,"Insulin Receptor, Defect in",,
508093,MEPAN syndrome,C4310634,"DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",,
50814,Craniolenticulosutural dysplasia,C1843042,Craniolenticulosutural Dysplasia,,
50839,Cat-scratch disease,C0007361,Cat-Scratch Disease,A00-B99,Certain infectious and parasitic diseases
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,C4479270,"HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT",,
508529,"Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss",C4310631,"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS",,
509,Leptospirosis,C0023364,Leptospirosis,A00-B99,Certain infectious and parasitic diseases
50918,Kikuchi-Fujimoto disease,C0398367,Histiocytic Necrotizing Lymphadenitis,,
50944,Schöpf-Schulz-Passarge syndrome,C1857069,SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder),,
50945,Blomstrand lethal chondrodysplasia,C1859148,"Chondrodysplasia, blomstrand type",,
51,Aicardi-Goutières syndrome,C0393591,AICARDI-GOUTIERES SYNDROME,,
510,Lesch-Nyhan syndrome,C0023374,Lesch-Nyhan Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
510,Lesch-Nyhan syndrome,C1845892,"Lesch-Nyhan Syndrome, Neurologic Variant",,
51083,Familial short QT syndrome,C1865020,Short QT Syndrome 1,,
511,Maple syrup urine disease,C0024776,Maple Syrup Urine Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
511,Maple syrup urine disease,C0268568,Classic Maple Syrup Urine Disease,,
511,Maple syrup urine disease,C0268569,Intermittent Maple Syrup Urine Disease,,
511,Maple syrup urine disease,C0268576,Hyperleucinemia,,
511,Maple syrup urine disease,C0751285,"Maple Syrup Urine Disease, Thiamine Responsive",,
511,Maple syrup urine disease,C1621920,Intermediate Maple Syrup Urine Disease,,
511,Maple syrup urine disease,C1855369,"Maple Syrup Urine Disease, Type IA",,
511,Maple syrup urine disease,C1855371,"MAPLE SYRUP URINE DISEASE, TYPE II",,
511,Maple syrup urine disease,C2930990,"Maple syrup urine disease, type 1B",,
51188,Ethylmalonic encephalopathy,C1865349,Ethylmalonic encephalopathy,,
512,Metachromatic leukodystrophy,C0023522,"Leukodystrophy, Metachromatic",E00-E90,"Endocrine, nutritional and metabolic diseases"
512,Metachromatic leukodystrophy,C0751276,"Metachromatic leukodystrophy, juvenile type",,
512,Metachromatic leukodystrophy,C0751278,"Metachromatic Leukodystrophy, Infant",,
512,Metachromatic leukodystrophy,C0751279,"Metachromatic Leukodystrophy, Adult-Type (disorder)",,
512,Metachromatic leukodystrophy,C1855255,Pseudoarylsulfatase A Deficiency,,
512,Metachromatic leukodystrophy,C2713319,Arylsulfatase A Deficiency,,
51208,Formiminoglutamic aciduria,C0268609,Glutamate formiminotransferase deficiency,,
513,Acute lymphoblastic leukemia,C0023449,Acute lymphocytic leukemia,C00-D48,Neoplasms
513,Acute lymphoblastic leukemia,C1961102,Precursor Cell Lymphoblastic Leukemia Lymphoma,,
513436,Autosomal recessive spastic paraplegia type 78,C4310662,"SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",,
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,C4539927,SKRABAN-DEARDORFF SYNDROME,,
514,Acute monoblastic leukemia,C0023465,Acute monocytic leukemia,,
514,Acute monoblastic leukemia,C0457334,Acute monoblastic leukemia,C00-D48,Neoplasms
514,Acute monoblastic leukemia,C1318544,M5b Acute differentiated monocytic leukemia,,
51577,Cobblestone lissencephaly,C0431376,Cobblestone Lissencephaly,,
51608,Generalized arterial calcification of infancy,C0264955,Idiopathic arterial calcification of infancy,,
51608,Generalized arterial calcification of infancy,C1859727,Arterial calcification of infancy,,
51608,Generalized arterial calcification of infancy,C1859728,"Coronary Sclerosis, Medial, of Infancy",,
51608,Generalized arterial calcification of infancy,C3276161,"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2",,
51636,WHIM syndrome,C0472817,WHIM syndrome,,
517,Acute myelomonocytic leukemia,C0023479,Acute myelomonocytic leukemia,C00-D48,Neoplasms
518,Acute megakaryoblastic leukemia,C0023462,Acute Megakaryocytic Leukemias,C00-D48,Neoplasms
519,Acute myeloid leukemia,C0023467,"Leukemia, Myelocytic, Acute",C00-D48,Neoplasms
519,Acute myeloid leukemia,C1879321,Acute Myeloid Leukemia (AML-M2),C00-D48,Neoplasms
519,Acute myeloid leukemia,C3275959,"LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO",,
519388,Autosomal recessive anterior segment dysgenesis,C4310622,ANTERIOR SEGMENT DYSGENESIS 8,,
52,Alagille syndrome,C0085280,Alagille Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
52,Alagille syndrome,C1956125,Alagille Syndrome 1,,
520,Acute promyelocytic leukemia,C0023487,Acute Promyelocytic Leukemia,C00-D48,Neoplasms
52022,Potocki-Shaffer syndrome,C1832588,Chromosome 11p11.2 Deletion Syndrome,,
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,C1845446,"Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia",,
52056,Ulnar/fibula ray defect-brachydactyly syndrome,C1837830,Ulnar-Fibular Ray Defect and Brachydactyly,,
521,Chronic myeloid leukemia,C0023473,"Myeloid Leukemia, Chronic",,
521,Chronic myeloid leukemia,C1292772,"Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative",C00-D48,Neoplasms
521305,Proximal myopathy with focal depletion of mitochondria,C1833453,Proximal Myopathy with Focal Depletion of Mitochondria,,
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,C4284592,"SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY",,
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,C4310765,HYPERMANGANESEMIA WITH DYSTONIA 2,,
521426,PLAA-associated neurodevelopmental disorder,C4479631,"NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES",,
521438,Congenital vertebral-cardiac-renal anomalies syndrome,C4540004,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1",,
521438,Congenital vertebral-cardiac-renal anomalies syndrome,C4540014,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",,
523,Hereditary leiomyomatosis and renal cell cancer,C1708350,Hereditary Leiomyomatosis and Renal Cell Cancer,,
52368,Mohr-Tranebjaerg syndrome,C0796074,MOHR-TRANEBJAERG SYNDROME,,
52368,Mohr-Tranebjaerg syndrome,C1839564,Jensen syndrome,,
524,Li-Fraumeni syndrome,C0085390,Li-Fraumeni Syndrome,,
524,Li-Fraumeni syndrome,C2675080,Li-Fraumeni-Like Syndrome,,
52416,Mantle cell lymphoma,C0024305,"Lymphoma, Non-Hodgkin",C00-D48,Neoplasms
52416,Mantle cell lymphoma,C0334634,"Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse",,
52416,Mantle cell lymphoma,C0555202,"Malignant lymphoma - lymphocytic, intermediate differentiation",,
52417,MALT lymphoma,C0242647,Mucosa-Associated Lymphoid Tissue Lymphoma,C00-D48,Neoplasms
52417,MALT lymphoma,C1850900,Familial primary gastric lymphoma,,
52427,Retinitis punctata albescens,C0311338,Fundus Albipunctatus,,
52427,Retinitis punctata albescens,C1405854,Retinitis punctata albescens (disorder),,
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,C1833662,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA,,
525,Lichen planopilaris,C0023645,Lichen planus follicularis,L00-L99,Diseases of the skin and subcutaneous tissue
52503,X-linked creatine transporter deficiency,C1845862,"Creatine deficiency, X-linked",,
52530,Pseudo-von Willebrand disease,C1280798,"Von Willebrand disease, platelet type",,
526,Liddle syndrome,C0221043,Liddle Syndrome,,
52688,Myelodysplastic syndrome,C0026985,Myelodysplasia,C00-D48,Neoplasms
52688,Myelodysplastic syndrome,C3463824,MYELODYSPLASTIC SYNDROME,C00-D48,Neoplasms
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,C4479653,"SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY",,
52759,Vasculitis,C0042384,Vasculitis,,
52759,Vasculitis,C0264939,Systemic Vasculitis,,
528,Berardinelli-Seip congenital lipodystrophy,C0011859,Lipoatrophic Diabetes Mellitus,,
528,Berardinelli-Seip congenital lipodystrophy,C0221032,Familial generalized lipodystrophy,,
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,C4310761,"HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",,
52901,Isolated follicle stimulating hormone deficiency,C0342386,Follicle stimulating hormone deficiency,,
52901,Isolated follicle stimulating hormone deficiency,C1856716,"Follicle-stimulating hormone deficiency, isolated",,
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,C4540520,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15,,
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,C4540131,PILAROWSKI-BJORNSSON SYNDROME,,
529970,Male infertility due to acephalic spermatozoa,C4310674,SPERMATOGENIC FAILURE 16,,
53,Albers-Schönberg osteopetrosis,C3179239,Osteopetrosis Autosomal Dominant Type 2,,
530,Lipoid proteinosis,C0023795,Lipoid Proteinosis of Urbach and Wiethe,,
53035,Caroli disease,C0162510,Caroli Disease,,
53035,Caroli disease,C1833541,Caroli disease isolated,,
530838,KRT1-related diffuse nonepidermolytic keratoderma,C1833030,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",,
530849,Familial apolipoprotein A5 deficiency,C0020481,Hyperlipoproteinemia Type V,,
530849,Familial apolipoprotein A5 deficiency,C3489395,"Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",,
530995,Mixed phenotype acute leukemia,C2826025,Mixed phenotype acute leukemia,,
531,Miller-Dieker syndrome,C0265219,Miller Dieker syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
531,Miller-Dieker syndrome,C1955870,Classical Lissencephalies and Subcortical Band Heterotopias,,
53271,Muenke syndrome,C1864436,Muenke Syndrome,,
533,Listeriosis,C0023860,Listeriosis,A00-B99,Certain infectious and parasitic diseases
53347,Brody myopathy,C1832918,Brody myopathy,,
53351,X-linked dystonia-parkinsonism,C1839130,"Dystonia 3, Torsion, X-Linked",,
534,Oculocerebrorenal syndrome of Lowe,C0028860,Oculocerebrorenal Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
534,Oculocerebrorenal syndrome of Lowe,C2713392,"Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",,
535,Rare cutaneous lupus erythematosus,C0024137,"Lupus Erythematosus, Cutaneous",,
53540,Goldmann-Favre syndrome,C0339541,Goldmann-Favre syndrome (disorder),,
53540,Goldmann-Favre syndrome,C1849394,Enhanced S-Cone Syndrome,,
535453,Familial lipase maturation factor 1 deficiency,C1855498,Lipase deficiency combined,,
535458,Familial GPIHBP1 deficiency,C4014767,"HYPERLIPOPROTEINEMIA, TYPE ID",,
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,C1832855,"CHOREOATHETOSIS/SPASTICITY, EPISODIC",,
536,Systemic lupus erythematosus,C0024141,"Lupus Erythematosus, Systemic",M00-M99,Diseases of the musculoskeletal system and connective tissue
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,C3809210,"EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",,
53693,GRACILE syndrome,C1864002,GRACILE SYNDROME (disorder),,
53696,Lethal arthrogryposis-anterior horn cell disease syndrome,C2678471,Lethal Arthrogryposis With Anterior Horn Cell Disease,,
53697,Gnathodiaphyseal dysplasia,C1833736,"Osteogenesis imperfecta, Levin type",,
537,Toxic epidermal necrolysis,C0014518,Toxic Epidermal Necrolysis,L00-L99,Diseases of the skin and subcutaneous tissue
53715,Familial tumoral calcinosis,C0263628,Tumoral calcinosis,,
538,Lymphangioleiomyomatosis,C0751674,Lymphangioleiomyomatosis,J00-J99,Diseases of the respiratory system
538756,Familial multiple discoid fibromas,C1860850,Familial multiple trichodiscomas,,
538931,X-linked lymphoproliferative disease due to SH2D1A deficiency,C0549463,X-Linked Lymphoproliferative Disorder,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
538934,X-linked lymphoproliferative disease due to XIAP deficiency,C1845076,"Lymphoproliferative Syndrome, X-Linked, 2",,
538963,Combined immunodeficiency due to ITK deficiency,C3552634,LYMPHOPROLIFERATIVE SYNDROME 1,,
54,X-linked recessive ocular albinism,C0342684,"Ocular albinism, type I",E00-E90,"Endocrine, nutritional and metabolic diseases"
540,Familial hemophagocytic lymphohistiocytosis,C0272199,Familial Hemophagocytic Lymphocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
54057,Thrombotic thrombocytopenic purpura,C0034155,"Purpura, Thrombotic Thrombocytopenic",M00-M99,Diseases of the musculoskeletal system and connective tissue
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,C1301362,Primary Cutaneous Anaplastic Large Cell Lymphoma,C00-D48,Neoplasms
541423,Growth delay-intellectual disability-hepatopathy syndrome,C4310720,"GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY",,
542,Primary cutaneous lymphoma,C1276146,Cutaneous lymphoma,,
542,Primary cutaneous lymphoma,C1302772,Primary cutaneous lymphoma,,
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,C4310682,INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA,,
542310,Leukoencephalopathy with calcifications and cysts,C3281200,"LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS",,
54247,Posterior cortical atrophy,C4275079,Posterior cortical atrophy syndrome,,
542585,Auditory neuropathy-optic atrophy syndrome,C4521678,AUDITORY NEUROPATHY AND OPTIC ATROPHY,,
542657,Isolated hyperchlorhidrosis,C1840437,Isolated hyperchlorhidrosis,,
54272,Hepatocellular adenoma,C0206669,Hepatocellular Adenoma,,
543,Burkitt lymphoma,C0006413,Burkitt Lymphoma,C00-D48,Neoplasms
543,Burkitt lymphoma,C0024305,"Lymphoma, Non-Hodgkin",C00-D48,Neoplasms
543,Burkitt lymphoma,C0079770,"Lymphoma, Small Noncleaved-Cell",,
54370,Primary membranoproliferative glomerulonephritis,C0017662,"Glomerulonephritis, Membranoproliferative",,
544,Diffuse large B-cell lymphoma,C0079744,Diffuse Large B-Cell Lymphoma,C00-D48,Neoplasms
544469,PRUNE1-related neurological syndrome,C4479566,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES",,
545,Follicular lymphoma,C0024301,"Lymphoma, Follicular",C00-D48,Neoplasms
54595,Craniopharyngioma,C0010276,Craniopharyngioma,,
547,Non-Hodgkin lymphoma,C0024305,"Lymphoma, Non-Hodgkin",C00-D48,Neoplasms
548,Leprosy,C0023343,Leprosy,A00-B99,Certain infectious and parasitic diseases
549,Legionellosis,C0023240,Legionellosis,,
549,Legionellosis,C0023241,Legionnaires\' Disease,A00-B99,Certain infectious and parasitic diseases
55,Oculocutaneous albinism,C0078918,"Albinism, Oculocutaneous",E00-E90,"Endocrine, nutritional and metabolic diseases"
550,MELAS,C0162671,MELAS Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
551,MERRF,C0162672,MERRF Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
552,MODY,C0342276,Maturity onset diabetes mellitus in young,,
553,Cushing syndrome,C0001622,Adrenal Gland Hyperfunction,,
553,Cushing syndrome,C0010481,Cushing Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
555407,NAD(P)HX epimerase deficiency,C4310675,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",,
55595,TNP03-related  limb-girdle muscular dystrophy D2,C1842062,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F",,
55596,HNRNPDL-related  limb-girdle muscular dystrophy D3,C1836765,"LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)",,
55654,Hypotrichosis simplex,C1854310,Hypotrichosis simplex,,
557,Isolated anorectal malformation,C3495676,Anorectal Malformations,,
558,Marfan syndrome,C0024796,Marfan Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
55880,Chondrosarcoma,C0008479,Chondrosarcoma,,
55881,Adamantinoma,C1367554,Adamantinoma,,
559,Marinesco-Sjögren syndrome,C0024814,Marinesco-Sjogren syndrome,,
56,Alkaptonuria,C0002066,Alkaptonuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
56,Alkaptonuria,C2931645,"Ochronosis, hereditary",,
560,Marshall syndrome,C0265235,Marshall syndrome,,
56044,Carcinoma of gallbladder and extrahepatic biliary tract,C0153452,Malignant neoplasm of gallbladder,C00-D48,Neoplasms
56044,Carcinoma of gallbladder and extrahepatic biliary tract,C0235782,Gallbladder Carcinoma,,
561,Marshall-Smith syndrome,C0265211,Marshall-Smith syndrome,,
562,McCune-Albright syndrome,C0016065,Polyostotic fibrous dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
562,McCune-Albright syndrome,C0242292,McCune-Albright Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
563,Peripartum cardiomyopathy,C0269972,Postpartum cardiomyopathy,,
563,Peripartum cardiomyopathy,C0877208,Peripartum cardiomyopathy,,
56304,Atelosteogenesis type II,C1850554,Atelosteogenesis type 2,,
56304,Atelosteogenesis type II,C1850555,De La Chapelle Dysplasia,,
56305,Atelosteogenesis type III,C3668942,Atelosteogenesis Type 3,,
564,Meckel syndrome,C0265215,Meckel-Gruber syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
564,Meckel syndrome,C3714506,Meckel syndrome type 1,,
56425,Cold agglutinin disease,C0175816,Cold Hemagglutinin Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
565,Menkes disease,C0022716,Menkes Kinky Hair Syndrome,,
566,Congenital microcoria,C1303009,"Microcoria, congenital",,
567,22q11.2 deletion syndrome,C0012236,DiGeorge Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
567,22q11.2 deletion syndrome,C0220704,Shprintzen syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
567,22q11.2 deletion syndrome,C0431406,Asymmetric crying face association,,
567,22q11.2 deletion syndrome,C0795907,CONOTRUNCAL ANOMALY FACE SYNDROME,,
567,22q11.2 deletion syndrome,C2936346,22q11 Deletion Syndrome,,
567,22q11.2 deletion syndrome,C3266101,22q11 partial monosomy syndrome,,
568,"Microphthalmia, Lenz type",C0796016,"Microphthalmia, syndromic 1",,
56970,Human prion disease,C0162534,Prion Diseases,A00-B99,Certain infectious and parasitic diseases
57,Glycogen storage disease due to aldolase A deficiency,C0272066,Glycogen Storage Disease XII,,
570,Moebius syndrome,C0221060,Mobius Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
570,Moebius syndrome,C0853240,Mobius II syndrome,,
572,Immunodeficiency by defective expression of MHC class II,C0451696,Major histocompatibility complex class II deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
572,Immunodeficiency by defective expression of MHC class II,C1859534,"Bare Lymphocyte Syndrome, Type II, Complementation Group A",,
572,Immunodeficiency by defective expression of MHC class II,C1859535,"Bare Lymphocyte Syndrome, Type II, Complementation Group B",,
572,Immunodeficiency by defective expression of MHC class II,C1859536,"Bare Lymphocyte Syndrome, Type II, Complementation Group C",,
572,Immunodeficiency by defective expression of MHC class II,C1859537,"Bare Lymphocyte Syndrome, Type II, Complementation Group D",,
572,Immunodeficiency by defective expression of MHC class II,C1859538,"Bare Lymphocyte Syndrome, Type II, Complementation Group E",,
572,Immunodeficiency by defective expression of MHC class II,C2931418,Bare lymphocyte syndrome 2,,
573,Monilethrix,C0546966,Monilethrix,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
574,Monosomy 21,C0795875,Chromosome 21 monosomy,,
575,Muckle-Wells syndrome,C0268390,Muckle-Wells Syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
576,Mucolipidosis type II,C0020725,Type II Mucolipidosis,,
576,Mucolipidosis type II,C2673377,MUCOLIPIDOSIS II ALPHA/BETA (disorder),,
576,Mucolipidosis type II,C2931894,Mucolipidosis 2,,
577,Mucolipidosis type III,C0033788,Pseudo-Hurler Polydystrophy,,
57782,Mazabraud syndrome,C3697137,Fibrous dysplasia of bone with intramuscular myxoma,,
578,Mucolipidosis type IV,C0238286,Mucolipidosis Type IV,E00-E90,"Endocrine, nutritional and metabolic diseases"
579,Mucopolysaccharidosis type 1,C0023786,Mucopolysaccharidosis I,E00-E90,"Endocrine, nutritional and metabolic diseases"
579,Mucopolysaccharidosis type 1,C2713321,alpha-L-Iduronidase Deficiency,,
58,Alexander disease,C0270726,Alexander Disease,,
580,Mucopolysaccharidosis type 2,C0026705,Mucopolysaccharidosis II,E00-E90,"Endocrine, nutritional and metabolic diseases"
580,Mucopolysaccharidosis type 2,C2718304,Sulfoiduronate Sulfatase Deficiency,,
58017,Classic hairy cell leukemia,C0023443,Hairy Cell Leukemia,C00-D48,Neoplasms
581,Mucopolysaccharidosis type 3,C0026706,Mucopolysaccharidosis III,,
581,Mucopolysaccharidosis type 3,C0086648,MPS III B,E00-E90,"Endocrine, nutritional and metabolic diseases"
582,Mucopolysaccharidosis type 4,C0026707,Mucopolysaccharidosis IV,E00-E90,"Endocrine, nutritional and metabolic diseases"
582,Mucopolysaccharidosis type 4,C0086651,"Mucopolysaccharidosis, MPS-IV-A",E00-E90,"Endocrine, nutritional and metabolic diseases"
583,Mucopolysaccharidosis type 6,C0026709,Mucopolysaccharidosis VI,,
584,Mucopolysaccharidosis type 7,C0085132,Mucopolysaccharidosis VII,E00-E90,"Endocrine, nutritional and metabolic diseases"
585,Multiple sulfatase deficiency,C0268263,Multiple Sulfatase Deficiency Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
585,Multiple sulfatase deficiency,C1720864,"Sulfatidosis, Juvenile, Austin Type",,
586,Cystic fibrosis,C0010674,Cystic Fibrosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
587,Muir-Torre syndrome,C1321489,Torre-Muir syndrome,,
588,Muscle-eye-brain disease,C0457133,Muscle eye brain disease,,
589,Myasthenia gravis,C0026896,Myasthenia Gravis,G00-G99,Diseases of the nervous system
59,Allan-Herndon-Dudley syndrome,C0795889,Allan-Herndon-Dudley syndrome (AHDS),,
590,Congenital myasthenic syndrome,C0751882,"Myasthenic Syndromes, Congenital",,
59181,Sorsby pseudoinflammatory fundus dystrophy,C1850938,"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",,
592,Macrophagic myofasciitis,C2931639,Macrophagic myofasciitis,,
59298,Schilder disease,C0007795,Diffuse Cerebral Sclerosis of Schilder,G00-G99,Diseases of the nervous system
593,Myofibrillar myopathy,C2678065,Myofibrillar Myopathy,,
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,C1843355,"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS",,
59305,Gestational trophoblastic neoplasm,C1135868,Gestational Trophoblastic Neoplasms,,
59305,Gestational trophoblastic neoplasm,C2931618,Gestational trophoblastic disease,O00-O099,"Pregnancy, childbirth and the puerperium"
59306,McLeod neuroacanthocytosis syndrome,C0398568,Blood group deletion syndrome,,
59315,Rhombencephalosynapsis,C1866130,Rhombencephalosynapsis,,
595,Centronuclear myopathy,C0175709,Centronuclear myopathy,,
596,X-linked centronuclear myopathy,C0410203,X-linked centronuclear myopathy,,
597,Central core disease,C0751951,Central Core Myopathy (disorder),G00-G99,Diseases of the nervous system
597,Central core disease,C1861753,"Multiminicore Disease, Moderate, with Hand Involvement",,
597,Central core disease,C2674259,"NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",,
598,Multiminicore myopathy,C0270962,Multi-core congenital myopathy,G00-G99,Diseases of the nervous system
599,Distal myopathy,C0751336,Distal Muscular Dystrophies,G00-G99,Diseases of the nervous system
6,3-methylcrotonyl-CoA carboxylase deficiency,C0268600,3-methylcrotonyl CoA carboxylase 1 deficiency,,
60,Alpha-1-antitrypsin deficiency,C0221757,alpha 1-Antitrypsin Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
60,Alpha-1-antitrypsin deficiency,C3501835,"alpha-1-Antitrypsin Deficiency, Autosomal Recessive",,
60015,Enlarged parietal foramina,C1868598,PARIETAL FORAMINA,,
60015,Enlarged parietal foramina,C1868599,PARIETAL FORAMINA 1,,
60025,Pulmonary alveolar microlithiasis,C0155912,Pulmonary Alveolar Microlithiasis,J00-J99,Diseases of the respiratory system
60030,Loeys-Dietz syndrome,C1836635,Loeys-Dietz Aortic Aneurysm Syndrome,,
60030,Loeys-Dietz syndrome,C2697932,Loeys-Dietz Syndrome,,
60032,Recurrent respiratory papillomatosis,C1168198,Recurrent respiratory papillomatosis,,
60033,Idiopathic bronchiectasis,C0339985,Idiopathic bronchiectasis,,
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,C1865285,Megalencephaly cutis marmorata telangiectatica congenita,,
60041,Congenital heart block,C0149530,Congenital heart block,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
602,GNE myopathy,C1833373,"Inclusion Body Myopathy, Autosomal Recessive",,
602,GNE myopathy,C1853926,NONAKA MYOPATHY,,
603,"Distal myopathy, Welander type",C0221054,Welander Distal Myopathy,,
603,"Distal myopathy, Welander type",C2931290,"Welander distal myopathy, Swedish type",,
606,Proximal myotonic myopathy,C0553604,Myotonic Disorders,G00-G99,Diseases of the nervous system
606,Proximal myotonic myopathy,C2931689,Dystrophia myotonica 2,G00-G99,Diseases of the nervous system
607,Nemaline myopathy,C0206157,"Myopathies, Nemaline",G00-G99,Diseases of the nervous system
609,Tibial muscular dystrophy,C1450052,Tibial Muscular Dystrophy,,
609,Tibial muscular dystrophy,C1838244,"TIBIAL MUSCULAR DYSTROPHY, TARDIVE",,
61,Alpha-mannosidosis,C0024748,alpha-Mannosidosis,,
610,Bethlem myopathy,C1834674,Bethlem myopathy,,
611,Inclusion body myositis,C0238190,Inclusion Body Myositis (disorder),G00-G99,Diseases of the nervous system
611,Inclusion body myositis,C0751713,"Inclusion Body Myopathy, Sporadic",,
612,Potassium-aggravated myotonia,C0752355,Myotonia Fluctuans (disorder),G00-G99,Diseases of the nervous system
612,Potassium-aggravated myotonia,C2931826,Potassium aggravated myotonia,G00-G99,Diseases of the nervous system
612,Potassium-aggravated myotonia,C3149517,"LARYNGOSPASM, SEVERE NEONATAL EPISODIC",,
614,Thomsen and Becker disease,C0027127,Myotonia Congenita,,
614,Thomsen and Becker disease,C2936781,Generalized Myotonia of Thomsen,G00-G99,Diseases of the nervous system
615,Familial atrial myxoma,C1850635,"Atrial myxoma, familial",,
615,Familial atrial myxoma,C2931787,Intracardiac myxoma,,
616,Medulloblastoma,C0025149,Medulloblastoma,,
616,Medulloblastoma,C0751291,Desmoplastic Medulloblastoma,,
616,Medulloblastoma,C1334970,Medulloblastoma with extensive nodularity,,
617,Congenital primary megaureter,C0266324,Congenital dilatation of ureter,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
618,Familial melanoma,C2314896,Familial Atypical Mole Melanoma Syndrome,,
62,Alpha-sarcoglycan-related  limb-girdle muscular dystrophy R3,C2936332,Alpha-Sarcoglycanopathies,,
621,Hereditary methemoglobinemia,C0272087,Congenital Methemoglobinemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
626,Large congenital melanocytic nevus,C0206739,Epithelioid and spindle cell nevus,,
626,Large congenital melanocytic nevus,C0346099,Nevus spilus,,
626,Large congenital melanocytic nevus,C1318558,Congenital melanocytic nevus,,
626,Large congenital melanocytic nevus,C1842036,GIANT PIGMENTED HAIRY NEVUS,,
627,Nance-Horan syndrome,C0796085,Nance-Horan syndrome,,
628,Diastrophic dwarfism,C0220726,Diastrophic dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
628,Diastrophic dwarfism,C1857255,"Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",,
629,Short stature due to growth hormone qualitative anomaly,C1849779,Kowarski syndrome,,
63,Alport syndrome,C0027706,Hereditary nephritis,,
63,Alport syndrome,C1567741,Alport Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
631,Non-acquired isolated growth hormone deficiency,C0013338,Pituitary dwarfism,E00-E90,"Endocrine, nutritional and metabolic diseases"
631,Non-acquired isolated growth hormone deficiency,C0271561,Somatotropin deficiency,,
63259,Iniencephaly,C0152234,Iniencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
63273,Distal myopathy with posterior leg and anterior hand involvement,C3279722,"MYOPATHY, DISTAL, 4",,
63275,Pemphigoid gestationis,C0019343,Pemphigoid Gestationis,,
633,Laron syndrome,C0271568,Laron Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
634,Netherton syndrome,C0265962,Ichthyosis linearis circumflexa,,
63440,Isolated oxycephaly,C0030044,Acrocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
63442,Angel-shaped phalango-epiphyseal dysplasia,C1739384,Angel shaped phalangoepiphyseal dysplasia,,
63443,Rare epithelial tumor of stomach,C0024623,Malignant neoplasm of stomach,C00-D48,Neoplasms
63446,Acrocapitofemoral dysplasia,C1843096,Acrocapitofemoral Dysplasia,,
63454,Pattern dystrophy,C1868569,Patterned dystrophy of retinal pigment epithelium,,
63455,Paraneoplastic pemphigus,C1112570,Paraneoplastic pemphigus,L00-L99,Diseases of the skin and subcutaneous tissue
635,Neuroblastoma,C0027819,Neuroblastoma,,
635,Neuroblastoma,C2931189,Neural crest tumor,,
636,Neurofibromatosis type 1,C0027831,Neurofibromatosis 1,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
637,Neurofibromatosis type 2,C0027832,Neurofibromatosis 2,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
637,Neurofibromatosis type 2,C0027859,Acoustic Neuroma,,
637,Neurofibromatosis type 2,C1136041,Familial Acoustic Neuroma,,
637,Neurofibromatosis type 2,C1136042,"Neuroma, Acoustic, Bilateral",,
637,Neurofibromatosis type 2,C1136043,"Schwannoma, Acoustic, Bilateral",,
638,Neurofibromatosis-Noonan syndrome,C0027831,Neurofibromatosis 1,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
638,Neurofibromatosis-Noonan syndrome,C0553586,Cafe-au-lait macules with pulmonary stenosis,,
638,Neurofibromatosis-Noonan syndrome,C2931482,Neurofibromatosis-Noonan syndrome,,
64,Alström syndrome,C0268425,Alstrom Syndrome,,
640,Hereditary neuropathy with liability to pressure palsies,C0393814,Hereditary liability to pressure palsies,,
641,Multifocal motor neuropathy,C0393847,Multifocal motor neuropathy,G00-G99,Diseases of the nervous system
642,Hereditary sensory and autonomic neuropathy type 4,C0020074,HSAN Type IV,,
64280,Childhood absence epilepsy,C1838604,"EPILEPSY, CHILDHOOD ABSENCE, 1",,
643,Giant axonal neuropathy,C1850386,GIANT AXONAL NEUROPATHY 1,,
644,NARP syndrome,C1328349,Neuropathy ataxia and retinis pigmentosa,,
646,Niemann-Pick disease type C,C0220756,"Niemann-Pick Disease, Type C",E00-E90,"Endocrine, nutritional and metabolic diseases"
646,Niemann-Pick disease type C,C0268247,"Niemann-Pick Disease, Type D",E00-E90,"Endocrine, nutritional and metabolic diseases"
646,Niemann-Pick disease type C,C1850363,"Niemann-Pick Disease, Nova Scotian Type",,
646,Niemann-Pick disease type C,C3179455,"Niemann-Pick Disease, Type C1",,
647,Nijmegen breakage syndrome,C0398791,Nijmegen Breakage Syndrome,,
64739,Ovarian hyperstimulation syndrome,C0085083,Ovarian Hyperstimulation Syndrome,,
64739,Ovarian hyperstimulation syndrome,C3494162,"Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",,
64741,Pulmonary blastoma,C0206629,Pulmonary Blastoma,,
64742,Pleuropulmonary blastoma,C1266144,Pleuropulmonary blastoma,,
64743,Hepatoportal sclerosis,C4273756,Hepatoportal sclerosis,,
64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,C0270914,Hereditary Motor and Sensory-Neuropathy Type II,,
64748,Dejerine-Sottas syndrome,C0011195,Dejerine-Sottas Disease (disorder),G00-G99,Diseases of the nervous system
64749,Charcot-Marie-Tooth disease type 4,C4082197,Charcot-Marie-Tooth disease type 4,,
64752,Hereditary sensory and autonomic neuropathy type 5,C0002768,Congenital Pain Insensitivity,,
64752,Hereditary sensory and autonomic neuropathy type 5,C0020075,"Hereditary Sensory Autonomic Neuropathy, Type 5",,
64753,Spinocerebellar ataxia with axonal neuropathy type 2,C1853761,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",,
64754,Nevus comedonicus syndrome,C0265987,Nevus comedonicus,,
64755,Becker nevus syndrome,C0263579,Pigmented hairy epidermal nevus,,
64755,Becker nevus syndrome,C1858042,Becker Nevus Syndrome,,
648,Noonan syndrome,C0028326,Noonan Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
648,Noonan syndrome,C0041409,"Turner Syndrome, Male",,
648,Noonan syndrome,C0265261,Multiple pterygium syndrome,,
648,Noonan syndrome,C1527404,Female Pseudo-Turner Syndrome,,
649,Norrie disease,C0266526,Norrie disease,,
65,Leber congenital amaurosis,C0339527,Leber Congenital Amaurosis,,
65,Leber congenital amaurosis,C2931258,"Amaurosis congenita of Leber, type 1",,
650,LCAT deficiency,C0023195,Lecithin Acyltransferase Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
652,Multiple endocrine neoplasia type 1,C0025267,Multiple Endocrine Neoplasia Type 1,E00-E90,"Endocrine, nutritional and metabolic diseases"
65282,Carvajal syndrome,C1854063,Cardiomyopathy dilated with Woolly hair and keratoderma,,
65283,Timothy syndrome,C1832916,Timothy syndrome,,
65285,Lhermitte-Duclos disease,C0391826,Lhermitte-Duclos disease,,
65285,Lhermitte-Duclos disease,C1266181,Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos),,
65286,3q29 microdeletion syndrome,C2674949,Chromosome 3q29 Deletion Syndrome,,
65287,Beta-ureidopropionase deficiency,C1291512,Beta-Ureidopropionase Deficiency,,
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,C1836780,PANCREATIC AND CEREBELLAR AGENESIS,,
653,Multiple endocrine neoplasia type 2,C0025268,Multiple Endocrine Neoplasia Type 2a,E00-E90,"Endocrine, nutritional and metabolic diseases"
653,Multiple endocrine neoplasia type 2,C4048306,Multiple endocrine neoplasia Type 2,,
654,Nephroblastoma,C0027708,Nephroblastoma,,
655,Nephronophthisis,C0687120,Nephronophthisis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
656,Genetic steroid-resistant nephrotic syndrome,C1868672,"NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE",,
65681,Vaginal atresia,C1321884,Atresia of vagina,,
65682,Benign recurrent intrahepatic cholestasis,C0149841,Benign recurrent intrahepatic cholestasis,,
65683,Isolated focal cortical dysplasia,C1846385,FOCAL CORTICAL DYSPLASIA OF TAYLOR,,
65683,Isolated focal cortical dysplasia,C2938983,Focal cortical dysplasia,,
65684,Monomelic amyotrophy,C1865384,"Amyotrophy, monomelic",,
657,Congenital isolated hyperinsulinism,C0027773,Nesidioblastosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
657,Congenital isolated hyperinsulinism,C3888018,Congenital Hyperinsulinism,,
65720,Arthrogryposis-severe scoliosis syndrome,C1836756,"ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",,
65743,Autosomal dominant multiple pterygium syndrome,C1867440,"Multiple Pterygium Syndrome, Autosomal Dominant",,
65748,Multiple self-healing squamous epithelioma,C0546476,Multiple self-healing squamous epithelioma,,
65748,Multiple self-healing squamous epithelioma,C4083047,"MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO",,
65753,Charcot-Marie-Tooth disease type 1,C0751036,Hereditary Motor and Sensory Neuropathy Type I,,
65759,Carpenter syndrome,C1275078,Acrocephalopolysyndactyly type 2,,
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,C2609071,Olmsted syndrome,,
660,Omphalocele,C0795690,Congenital omphalocele,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
661,Ondine syndrome,C0020681,Sleep-related respiratory failure,,
661,Ondine syndrome,C1275808,Congenital central hypoventilation,,
661,Ondine syndrome,C1859049,CCHS WITH HIRSCHSPRUNG DISEASE,,
663,Mitochondrial DNA-related progressive external ophthalmoplegia,C0162674,Chronic progressive external ophthalmoplegia,H00-H59,Diseases of the eye and adnexa
664,Ornithine transcarbamylase deficiency,C0268542,Ornithine carbamoyltransferase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
66529,Tako-Tsubo cardiomyopathy,C1739395,Takotsubo Cardiomyopathy,I00-I99,Diseases of the circulatory system
666,Osteogenesis imperfecta,C0023931,Lobstein Disease,,
666,Osteogenesis imperfecta,C0029434,Osteogenesis Imperfecta,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
666,Osteogenesis imperfecta,C0268360,"Osteogenesis imperfecta, recessive perinatal lethal",,
666,Osteogenesis imperfecta,C1859069,Brittle Bone Disorder,,
66627,Pigmented villonodular synovitis,C0039106,Pigmented villonodular synovitis,M00-M99,Diseases of the musculoskeletal system and connective tissue
66628,Obesity due to congenital leptin deficiency,C3554224,LEPTIN DEFICIENCY OR DYSFUNCTION,,
66629,Goldberg-Shprintzen megacolon syndrome,C1836123,Goldberg-Shprintzen megacolon syndrome,,
66631,CEDNIK syndrome,C1836033,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",,
66634,Dilated cardiomyopathy with ataxia,C1857776,"3-@METHYLGLUTACONIC ACIDURIA, TYPE V",,
66637,Diaphanospondylodysostosis,C1842691,Diaphanospondylodysostosis,,
66646,Cutaneous mastocytosis,C0024899,Mastocytosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
66646,Cutaneous mastocytosis,C0024899,Mastocytosis,C00-D48,Neoplasms
66646,Cutaneous mastocytosis,C0024899,Mastocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
66646,Cutaneous mastocytosis,C1136033,Cutaneous Mastocytosis,C00-D48,Neoplasms
667,Autosomal recessive malignant osteopetrosis,C1318518,Infantile malignant osteopetrosis,,
668,Osteosarcoma,C0029463,Osteosarcoma,,
67036,Autosomal dominant optic atrophy and cataract,C1833809,"OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",,
67038,B-cell chronic lymphocytic leukemia,C0023434,Chronic Lymphocytic Leukemia,C00-D48,Neoplasms
67038,B-cell chronic lymphocytic leukemia,C0855095,Small Lymphocytic Lymphoma,,
67038,B-cell chronic lymphocytic leukemia,C1868683,"B-CELL MALIGNANCY, LOW-GRADE",,
67041,Hyaluronidase deficiency,C1291490,Hyaluronidase Deficiency,,
67042,Late-onset retinal degeneration,C1854065,LATE-ONSET RETINAL DEGENERATION (disorder),,
67043,Amoebic keratitis,C0000880,Acanthamoeba Keratitis,,
67044,Thrombocytopenia with congenital dyserythropoietic anemia,C1845837,Dyserythropoietic Anemia with Thrombocytopenia,,
67045,X-linked intellectual disability with isolated growth hormone deficiency,C1848068,"Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",,
67046,3-methylglutaconic aciduria type 1,C0342727,"3-@METHYLGLUTACONIC ACIDURIA, TYPE I",,
67046,3-methylglutaconic aciduria type 1,C0342728,3-Methylglutaconic aciduria type 1,,
67047,3-methylglutaconic aciduria type 3,C0574084,3-Methylglutaconic aciduria type 3,,
67048,3-methylglutaconic aciduria type 4,C1855126,3-Methylglutaconic Aciduria Type IV,,
671,Primary cutis verticis gyrata,C0263417,Cutis verticis gyrata,,
672,Pallister-Hall syndrome,C0265220,Pallister-Hall syndrome,,
672,Pallister-Hall syndrome,C0342418,Hypothalamic hamartomas,,
673,Malaria,C0024530,Malaria,A00-B99,Certain infectious and parasitic diseases
673,Malaria,C1855457,"MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)",,
673,Malaria,C1970028,"MALARIA, SUSCEPTIBILITY TO (finding)",,
675,Annular pancreas,C0149955,Annular pancreas,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
676,Hereditary chronic pancreatitis,C0238339,Hereditary pancreatitis,,
676,Hereditary chronic pancreatitis,C1868653,"Pancreatitis, Calcific",,
676,Hereditary chronic pancreatitis,C1969419,"PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO",,
677,Pancreatoblastoma,C0334489,Pancreatoblastoma,,
678,Papillon-Lefèvre syndrome,C0030360,Papillon-Lefevre Disease,,
679,Malignant atrophic papulosis,C0221011,Malignant Atrophic Papulosis,,
681,Hypokalemic periodic paralysis,C0238357,Hyperkalemic periodic paralysis,G00-G99,Diseases of the nervous system
681,Hypokalemic periodic paralysis,C0238358,Hypokalemic periodic paralysis,G00-G99,Diseases of the nervous system
681,Hypokalemic periodic paralysis,C3714580,Hypokalemic periodic paralysis type 1,,
682,Hyperkalemic periodic paralysis,C0238357,Hyperkalemic periodic paralysis,G00-G99,Diseases of the nervous system
682,Hyperkalemic periodic paralysis,C1868433,"Normokalemic Periodic Paralysis, Potassium-Sensitive",,
683,Progressive supranuclear palsy,C0038868,Progressive supranuclear palsy,G00-G99,Diseases of the nervous system
68367,Rare inborn errors of metabolism,C0025517,Metabolic Diseases,E00-E90,"Endocrine, nutritional and metabolic diseases"
68367,Rare inborn errors of metabolism,C0025521,Inborn Errors of Metabolism,,
684,Paramyotonia congenita of Von Eulenburg,C0221055,Paramyotonia Congenita (disorder),G00-G99,Diseases of the nervous system
684,Paramyotonia congenita of Von Eulenburg,C1868619,Paramyotonia Congenita Without Cold Paralysis,,
685,Hereditary spastic paraplegia,C0037773,"Spastic Paraplegia, Hereditary",G00-G99,Diseases of the nervous system
685,Hereditary spastic paraplegia,C2931355,"Spastic paraplegia 3, autosomal dominant",,
69,Amyloidosis,C0002726,Amyloidosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
69076,Familial renal glucosuria,C0017980,"Glycosuria, Renal",E00-E90,"Endocrine, nutritional and metabolic diseases"
69076,Familial renal glucosuria,C3245525,Familial renal glucosuria,,
69077,Rhabdoid tumor,C0206743,Rhabdoid Tumor,,
69078,Liposarcoma,C0023827,liposarcoma,,
69084,Pure hair and nail ectodermal dysplasia,C1865951,"Ectodermal Dysplasia, Pure Hair-Nail Type",,
69085,Limb-mammary syndrome,C1863753,LIMB-MAMMARY SYNDROME,,
69087,Naegeli-Franceschetti-Jadassohn syndrome,C0343111,Naegeli syndrome,,
69088,Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,C1845919,"Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",,
69126,Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,C1858361,"Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",M00-M99,Diseases of the musculoskeletal system and connective tissue
69663,Low phospholipid-associated cholelithiasis,C2609268,Low phospholipid-associated cholelithiasis,,
69665,Intrahepatic cholestasis of pregnancy,C0268318,Cholestasis of pregnancy,,
69723,Tyrosinemia type 3,C0268623,"Tyrosinemia, Type III",,
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,C4317151,"Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",,
69737,Bosley-Salih-Alorainy syndrome,C1832216,Bosley-Salih-Alorainy Syndrome,,
69739,Athabaskan brainstem dysgenesis syndrome,C1832215,Athabaskan brainstem dysgenesis,,
69739,Athabaskan brainstem dysgenesis syndrome,C1832216,Bosley-Salih-Alorainy Syndrome,,
699,Pearson syndrome,C0342784,Pearson\'s marrow-pancreas syndrome,,
699,Pearson syndrome,C3887523,Very long chain acyl-CoA dehydrogenase deficiency,,
7,3C syndrome,C0796137,3C syndrome,,
70,Proximal spinal muscular atrophy,C4024957,Proximal spinal muscular atrophy,,
700,Alopecia totalis,C0263504,Alopecia totalis,L00-L99,Diseases of the skin and subcutaneous tissue
701,Alopecia universalis,C0263505,Alopecia universalis,L00-L99,Diseases of the skin and subcutaneous tissue
702,Pelizaeus-Merzbacher disease,C0205711,Pelizaeus-Merzbacher Disease,,
703,Bullous pemphigoid,C0030805,Bullous pemphigoid,L00-L99,Diseases of the skin and subcutaneous tissue
704,Pemphigus vulgaris,C0030809,Pemphigus Vulgaris,L00-L99,Diseases of the skin and subcutaneous tissue
70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",C1857355,"Leigh syndrome , French Canadian type",,
70476,Vernal keratoconjunctivitis,C0022577,"Keratoconjunctivitis, Vernal",,
70482,Carcinoma of esophagus,C0014859,Esophageal Neoplasms,,
70482,Carcinoma of esophagus,C0152018,Esophageal carcinoma,,
70482,Carcinoma of esophagus,C0546837,Malignant neoplasm of esophagus,C00-D48,Neoplasms
705,Pendred syndrome,C0271829,Pendred\'s syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
70567,Cholangiocarcinoma,C0005396,Bile Duct Neoplasms,,
70567,Cholangiocarcinoma,C0206698,Cholangiocarcinoma,C00-D48,Neoplasms
70567,Cholangiocarcinoma,C0345905,Intrahepatic Cholangiocarcinoma,C00-D48,Neoplasms
70567,Cholangiocarcinoma,C0740277,Bile duct carcinoma,,
70568,Post-transplant lymphoproliferative disease,C0432487,Post-transplant lymphoproliferative disorder,C00-D48,Neoplasms
70573,Small cell lung cancer,C0149925,Small cell carcinoma of lung,,
70578,Adult acute respiratory distress syndrome,C0035222,"Respiratory Distress Syndrome, Adult",J00-J99,Diseases of the respiratory system
70587,Infant acute respiratory distress syndrome,C0020192,Hyaline Membrane Disease,P00-P96,Certain conditions originating in the perinatal period
70587,Infant acute respiratory distress syndrome,C0035220,"Respiratory Distress Syndrome, Newborn",P00-P96,Certain conditions originating in the perinatal period
70587,Infant acute respiratory distress syndrome,C0852283,Respiratory Distress Syndrome,,
70588,Meconium aspiration syndrome,C0025048,Meconium Aspiration Syndrome,P00-P96,Certain conditions originating in the perinatal period
70589,Bronchopulmonary dysplasia,C0006287,Bronchopulmonary Dysplasia,P00-P96,Certain conditions originating in the perinatal period
70591,Chronic thromboembolic pulmonary hypertension,C2363973,Chronic thromboembolic pulmonary hypertension,I00-I99,Diseases of the circulatory system
70592,Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,C1843256,IRAK4 Deficiency,,
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,C0268468,"Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency",,
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,C1843851,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",,
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,C1843852,SPINOCEREBELLAR ATAXIA WITH EPILEPSY,,
707,Plague,C0032064,Plague,A00-B99,Certain infectious and parasitic diseases
707,Plague,C0043407,Yersinia infections,,
708,Peters anomaly,C0344559,Irido-corneo-trabecular dysgenesis (disorder),Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
708,Peters anomaly,C4310809,ANTERIOR SEGMENT DYSGENESIS 5,,
709,Peters plus syndrome,C0796012,Krause-Kivlin syndrome,,
71,Chylomicron retention disease,C0795956,Chylomicron retention disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
710,Pfeiffer syndrome,C0220658,Pfeiffer Syndrome,,
710,Pfeiffer syndrome,C2931888,Pfeiffer type acrocephalosyndactyly,,
712,Hemolytic anemia due to glucophosphate isomerase deficiency,C3150730,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",,
71211,Neuromyelitis optica,C0027873,Neuromyelitis Optica,G00-G99,Diseases of the nervous system
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,C1291230,3-Hydroxyacyl-CoA Dehydrogenase Deficiency,,
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,C1864948,"Hyperinsulinemic Hypoglycemia, Familial, 4",,
71271,Split hand-split foot-deafness syndrome,C1857344,Split-Hand-Foot Malformation With Sensorineural Hearing Loss,,
71274,Disseminated peritoneal leiomyomatosis,C0267785,Leiomyomatosis peritonealis disseminata,,
71275,Rh deficiency syndrome,C0272052,Rh Deficiency Syndrome,,
71275,Rh deficiency syndrome,C1849387,"Rh-Null, Regulator Type",,
71277,Classic glucose transporter type 1 deficiency syndrome,C1847501,Glut1 Deficiency Syndrome,,
71277,Classic glucose transporter type 1 deficiency syndrome,C3149117,"GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",,
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,C1864910,"Glutamine deficiency, congenital",,
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,C1854273,Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia,,
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,C0684324,Deficiency of phosphoglycerate kinase,,
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,C1970848,Phosphoglycerate Kinase 1 Deficiency,,
71493,Familial thrombocytosis,C4303761,Familial thrombocytosis,,
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,C1845151,"Glycogen Storage Disease, Type IXD",,
71505,Cancer-associated retinopathy,C0730307,Cancer-Associated Retinopathy,,
71517,Rapid-onset dystonia-parkinsonism,C1868681,DYSTONIA 12,,
71518,Benign paroxysmal torticollis of infancy,C3494934,Benign paroxysmal torticollis of infancy,,
71526,Obesity due to pro-opiomelanocortin deficiency,C1857854,Proopiomelanocortin Deficiency,,
71528,Obesity due to prohormone convertase I deficiency,C1833053,Proprotein Convertase 1 3 Deficiency,,
71529,Obesity due to melanocortin 4 receptor deficiency,C4273958,Obesity due to melanocortin 4 receptor deficiency,,
716,Phenylketonuria,C0031485,Phenylketonurias,,
716,Phenylketonuria,C0085547,"Phenylketonuria, Maternal",,
716,Phenylketonuria,C0751434,Classical phenylketonuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
716,Phenylketonuria,C2678416,"Hyperphenylalaninemia, Non-Pku Mild",,
718,Isolated Pierre Robin syndrome,C0031900,Pierre Robin Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
72,Angelman syndrome,C0162635,Angelman Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
721,Gray platelet syndrome,C0272302,Gray Platelet Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
721,Gray platelet syndrome,C2717750,Platelet alpha-Granule Deficiency,,
722,Hypoplasminogenemia,C0398621,Hypoplasminogenemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
722,Hypoplasminogenemia,C1274789,Ligneous conjunctivitis,H00-H59,Diseases of the eye and adnexa
722,Hypoplasminogenemia,C1968804,"Plasminogen Deficiency, Type I",E00-E90,"Endocrine, nutritional and metabolic diseases"
723,Pneumocystosis,C1535939,Pneumocystis jiroveci pneumonia,A00-B99,Certain infectious and parasitic diseases
726,Alpers-Huttenlocher syndrome,C0007795,Diffuse Cerebral Sclerosis of Schilder,G00-G99,Diseases of the nervous system
726,Alpers-Huttenlocher syndrome,C0205710,Alpers Syndrome (disorder),G00-G99,Diseases of the nervous system
727,Microscopic polyangiitis,C2347126,Microscopic Polyarteritis,M00-M99,Diseases of the musculoskeletal system and connective tissue
728,Relapsing polychondritis,C0032453,"Polychondritis, Relapsing",M00-M99,Diseases of the musculoskeletal system and connective tissue
729,Polycythemia vera,C0032463,Polycythemia Vera,C00-D48,Neoplasms
73,Gorham-Stout disease,C0029438,Massive Osteolyses,,
730,Autosomal dominant polycystic kidney disease,C0085413,"Polycystic Kidney, Autosomal Dominant",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
731,Autosomal recessive polycystic kidney disease,C0085548,Autosomal Recessive Polycystic Kidney Disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
732,Polymyositis,C0085655,Polymyositis,M00-M99,Diseases of the musculoskeletal system and connective tissue
73217,Müllerian aplasia,C0431637,Mullerian aplasia,,
73220,X-linked intellectual disability-hypotonic face syndrome,C0796003,Juberg-Marsidi syndrome,,
73229,HANAC syndrome,C2673195,"Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",,
73247,Eosinophilic esophagitis,C0341106,Eosinophilic esophagitis,K00-K93,Diseases of the digestive system
73256,Central neurocytoma,C0206719,Central Neurocytoma,,
73260,Paracoccidioidomycosis,C0030409,Paracoccidioidomycosis,A00-B99,Certain infectious and parasitic diseases
73267,Non-24-hour sleep-wake syndrome,C0751759,Non-24 Hour Sleep-Wake Disorder,,
73272,Growth delay due to insulin-like growth factor type 1 deficiency,C1837475,Insulin-Like Growth Factor I Deficiency,,
73273,Growth delay due to insulin-like growth factor I resistance,C1849157,Resistance to Insulin-Like Growth Factor I,,
73274,Acquired hemophilia,C1096116,Acquired haemophilia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
733,Familial adenomatous polyposis,C0017097,Gardner Syndrome,,
733,Familial adenomatous polyposis,C0032580,Adenomatous Polyposis Coli,,
733,Familial adenomatous polyposis,C2673218,BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder),,
733,Familial adenomatous polyposis,C2674616,"FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",,
733,Familial adenomatous polyposis,C2713442,"Polyposis, Adenomatous Intestinal",,
735,Porokeratosis of Mibelli,C0949506,Porokeratosis of Mibelli,,
738,Porphyria,C0032708,Disorders of Porphyrin Metabolism,E00-E90,"Endocrine, nutritional and metabolic diseases"
739,Prader-Willi syndrome,C0032897,Prader-Willi Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
740,Hutchinson-Gilford progeria syndrome,C0033300,Progeria,E00-E90,"Endocrine, nutritional and metabolic diseases"
740,Hutchinson-Gilford progeria syndrome,C2750285,"Progeria Syndrome, Childhood-Onset",,
742,Prolidase deficiency,C0268532,Deficiency of prolidase,,
744,Proteus syndrome,C0085261,Proteus Syndrome,,
745,Severe hereditary thrombophilia due to congenital protein C deficiency,C0398625,Protein C Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
745,Severe hereditary thrombophilia due to congenital protein C deficiency,C2930896,"Congenital thrombotic disease, due to Protein C deficiency",,
746,Mitochondrial trifunctional protein deficiency,C0949658,"Cardiomyopathy, Hypertrophic, Familial",,
746,Mitochondrial trifunctional protein deficiency,C1969443,Trifunctional Protein Deficiency With Myopathy And Neuropathy,,
748,Mendelian susceptibility to mycobacterial diseases,C3266863,"Atypical Mycobacteriosis, Familial",,
750,Pseudoachondroplasia,C0410538,Pseudoachondroplasia,,
752,"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",C0268296,17-Hydroxysteroid Dehydrogenase Deficiency,,
75233,Wolman disease,C0043208,Wolman Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
75234,Cholesteryl ester storage disease,C0008384,Cholesterol Ester Storage Disease,,
75249,Familial isolated restrictive cardiomyopathy,C0348616,Other restrictive cardiomyopathy,I00-I99,Diseases of the circulatory system
753,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",C0268297,Pseudovaginal Perineoscrotal Hypospadias,,
753,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",C3669122,5-Alpha Reductase Deficiency,,
75326,Retinal arterial tortuosity,C1867327,"RETINAL ARTERIES, TORTUOSITY OF",,
75327,North Carolina macular dystrophy,C0730294,North Carolina macular dystrophy,,
75373,Progressive bifocal chorioretinal atrophy,C1833321,"CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL",,
75374,Bradyopsia,C1842073,Prolonged Electroretinal Response Suppression,,
75376,Familial drusen,C1832174,DOYNE HONEYCOMB RETINAL DYSTROPHY,,
75376,Familial drusen,C1852020,Malattia Leventinese,,
75376,Familial drusen,C1852021,"Drusen, Radial, Autosomal Dominant",,
75377,Central areolar choroidal dystrophy,C0344297,Choroidal sclerosis,H00-H59,Diseases of the eye and adnexa
75377,Central areolar choroidal dystrophy,C1536451,Central areolar choroidal sclerosis,,
75381,Cystoid macular dystrophy,C0024440,"Macular Edema, Cystoid",,
75382,Oguchi disease,C1306122,Oguchi disease,H00-H59,Diseases of the eye and adnexa
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,C1864947,"Natural Killer Cell Deficiency, Familial Isolated",,
75392,Periodontal Ehlers-Danlos syndrome,C0268347,"Ehlers-Danlos Syndrome, Type VIII",,
754,Androgen insensitivity syndrome,C0039585,Androgen-Insensitivity Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
754,Androgen insensitivity syndrome,C0936016,Testicular Feminization,E00-E90,"Endocrine, nutritional and metabolic diseases"
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,C1869122,"EHLERS-DANLOS SYNDROME, PROGEROID FORM",,
75497,X-linked Ehlers-Danlos syndrome,C0268341,Ehlers-Danlos syndrome type 5,,
75564,Acquired idiopathic sideroblastic anemia,C1264195,Refractory anemia with ringed sideroblasts,C00-D48,Neoplasms
75566,Loeffler endocarditis,C0206143,Loeffler\'s Endocarditis,,
756,Pseudohypoaldosteronism type 1,C0033805,Pseudohypoaldosteronism,,
756,Pseudohypoaldosteronism type 1,C0268436,"Pseudohypoaldosteronism, Type I",,
756,Pseudohypoaldosteronism type 1,C1449843,"Pseudohypoaldosteronism, Type I, Autosomal Recessive",,
757,Pseudohypoaldosteronism type 2,C1449844,"Pseudohypoaldosteronism, Type II",,
758,Pseudoxanthoma elasticum,C0033847,Pseudoxanthoma Elasticum,,
758,Pseudoxanthoma elasticum,C0376359,Gronblad-Strandberg Syndrome,,
758,Pseudoxanthoma elasticum,C3279392,"PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",,
75840,"Congenital muscular dystrophy, Ullrich type",C0410179,Scleroatonic muscular dystrophy,,
75857,6q terminal deletion syndrome,C4304514,6q terminal deletion syndrome,,
75858,MORM syndrome,C1857802,MORM syndrome,,
759,Central precocious puberty,C0342543,Central Precocious Puberty,E00-E90,"Endocrine, nutritional and metabolic diseases"
760,Purine nucleoside phosphorylase deficiency,C0268125,Purine-nucleoside phosphorylase deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
761,Immunoglobulin A vasculitis,C0034152,Henoch-Schoenlein Purpura,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
761,Immunoglobulin A vasculitis,C0086922,Rheumatoid Purpura,,
763,Pycnodysostosis,C0238402,Pycnodysostosis,,
765,Pyruvate dehydrogenase deficiency,C0034345,Pyruvate Dehydrogenase Complex Deficiency Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,C0340968,Deficiency of pyruvate kinase,,
767,Polyarteritis nodosa,C0031036,Polyarteritis Nodosa,M00-M99,Diseases of the musculoskeletal system and connective tissue
768,Familial long QT syndrome,C1141890,Congenital long QT syndrome,,
769,Rabson-Mendenhall syndrome,C0265344,Donohue Syndrome,,
769,Rabson-Mendenhall syndrome,C0271695,Rabson-Mendenhall Syndrome,,
770,Rabies,C0034494,Rabies (disorder),A00-B99,Certain infectious and parasitic diseases
772,Infantile Refsum disease,C0282527,Infantile Refsum Disease (disorder),G00-G99,Diseases of the nervous system
77240,Primary lymphedema,C0238261,Lymphedema praecox,I00-I99,Diseases of the circulatory system
77240,Primary lymphedema,C1704423,Milroy Disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
77259,Gaucher disease type 1,C1961835,"Gaucher Disease, Type 1",,
77260,Gaucher disease type 2,C0268250,"Gaucher Disease, Type 2 (disorder)",,
77261,Gaucher disease type 3,C0268251,"Gaucher Disease, Type 3 (disorder)",,
77292,Niemann-Pick disease type A,C0268242,"Niemann-Pick Disease, Type A",E00-E90,"Endocrine, nutritional and metabolic diseases"
77292,Niemann-Pick disease type A,C2675646,"NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",,
77293,Niemann-Pick disease type B,C0268243,"Niemann-Pick Disease, Type B",E00-E90,"Endocrine, nutritional and metabolic diseases"
77293,Niemann-Pick disease type B,C0268248,"Niemann-Pick Disease, Type E",,
77295,Odontoleukodystrophy,C3502054,"Leukodystrophy, Dysmyelinating, with Oligodontia",,
77296,Morgagni-Stewart-Morel syndrome,C0020494,Hyperostosis Frontalis Interna,,
77297,Majeed syndrome,C1864997,Majeed syndrome,M00-M99,Diseases of the musculoskeletal system and connective tissue
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,C1859773,"Microphthalmia, Syndromic 3",,
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,C1859774,Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System,,
773,Refsum disease,C0034960,Refsum Disease,G00-G99,Diseases of the nervous system
773,Refsum disease,C2749345,"Refsum Disease, Adult, 1",,
77301,Monosomy 9q22.3,C3711390,9q22.3 Microdeletion,,
774,Hereditary hemorrhagic telangiectasia,C0039445,Hereditary hemorrhagic telangiectasia,I00-I99,Diseases of the circulatory system
776,X-linked intellectual disability with marfanoid habitus,C0796022,Lujan Fryns syndrome,,
777,X-linked non-syndromic intellectual disability,C2931498,"Mental Retardation, X-Linked 1",,
778,Rett syndrome,C0035372,Rett Syndrome,F00-F99,Mental and behavioural disorders
778,Rett syndrome,C1839332,"Rett Syndrome, Preserved Speech Variant",,
778,Rett syndrome,C2677682,"Rett Syndrome, Zappella Variant",,
778,Rett syndrome,C2748910,"Rett Syndrome, Atypical",,
779,Reynolds syndrome,C0748397,Reynolds syndrome,,
78,Ankylostomiasis,C0019911,Hookworm Infections,A00-B99,Certain infectious and parasitic diseases
780,Rhabdomyosarcoma,C0035412,Rhabdomyosarcoma,,
781,Q fever,C0034362,Q Fever,A00-B99,Certain infectious and parasitic diseases
781,Q fever,C2973787,Coxiella burnetii Infection,,
782,Axenfeld-Rieger syndrome,C0265341,Rieger syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
782,Axenfeld-Rieger syndrome,C3495488,Axenfeld-Rieger syndrome,,
782,Axenfeld-Rieger syndrome,C3714873,"Axenfeld-Rieger Syndrome, Type 1",,
783,Rubinstein-Taybi syndrome,C0035934,Rubinstein-Taybi Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
785,Estrogen resistance syndrome,C3809250,ESTROGEN RESISTANCE,,
786,Generalized glucocorticoid resistance syndrome,C1841972,Glucocorticoid Receptor Deficiency,,
79,Congenital alpha2-antiplasmin deficiency,C2752081,ALPHA-2-PLASMIN INHIBITOR DEFICIENCY,,
790,Retinoblastoma,C0024622,Malignant neoplasm of retina,C00-D48,Neoplasms
790,Retinoblastoma,C0035335,Retinoblastoma,,
79076,Juvenile polyposis of infancy,C0345893,Juvenile polyposis syndrome,,
79078,IgG4-related dacryoadenitis and sialadenitis,C0026103,Mikulicz Disease,K00-K93,Diseases of the digestive system
79083,PPARG-related familial partial lipodystrophy,C1720861,"Familial Partial Lipodystrophy, Type 3",,
79084,"Familial partial lipodystrophy, Köbberling type",C1720859,"Familial Partial Lipodystrophy, Type 1",,
79087,Acquired partial lipodystrophy,C0220989,Acquired partial lipodystrophy,,
79087,Acquired partial lipodystrophy,C3887501,"LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO",,
79093,Foix-Alajouanine syndrome,C0348023,Spinal arteriovenous malformation,,
79094,Grange syndrome,C1865267,"Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly",,
79095,Congenital bile acid synthesis defect type 4,C1858328,"Bile acid synthesis defect, congenital, 4",,
79095,Congenital bile acid synthesis defect type 4,C3280428,Alpha-Methylacyl-CoA Racemase Deficiency,,
79096,Pyridoxal phosphate-responsive seizures,C1864723,Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency,,
79098,Sympathetic ophthalmia,C0029077,"Ophthalmia, Sympathetic",H00-H59,Diseases of the eye and adnexa
791,Retinitis pigmentosa,C0035334,Retinitis Pigmentosa,H00-H59,Diseases of the eye and adnexa
79100,Atrophoderma vermiculata,C0263429,Atrophoderma vermiculatum,L00-L99,Diseases of the skin and subcutaneous tissue
79101,Hyperprolinemia type 2,C2931835,Hyperprolinemia type 2,,
79102,Thyrotoxic periodic paralysis,C0268446,Thyrotoxic periodic paralysis,,
79105,Myxofibrosarcoma,C3714524,Fibromyxosarcoma,,
79106,Eiken syndrome,C1838779,Eiken Skeletal Dysplasia,,
79107,Developmental malformations-deafness-dystonia syndrome,C1846331,Juvenile-onset dystonia,,
79113,Mandibulofacial dysostosis-microcephaly syndrome,C1864652,"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate",,
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,C1857775,"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism",,
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,C1856128,Hepatic venoocclusive disease with immunodeficiency,,
79126,Acute interstitial pneumonia,C0085786,Hamman-Rich syndrome,J00-J99,Diseases of the respiratory system
79126,Acute interstitial pneumonia,C1279945,Acute interstitial pneumonia,J00-J99,Diseases of the respiratory system
79128,Lymphoid interstitial pneumonia,C0264511,Lymphoid interstitial pneumonia,J00-J99,Diseases of the respiratory system
79133,Focal facial dermal dysplasia type I,C1744559,Congenital ectodermal dysplasia of face,,
79133,Focal facial dermal dysplasia type I,C2936827,Focal facial dermal dysplasia,,
79134,DEND syndrome,C1853564,"Developmental Delay, Epilepsy, and Neonatal Diabetes",,
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,C1836173,Generalized Epilepsy and Paroxysmal Dyskinesia,,
79139,Japanese encephalitis,C0014057,Japanese Encephalitis,A00-B99,Certain infectious and parasitic diseases
79140,Cutaneous neuroendocrine carcinoma,C0007129,Merkel cell carcinoma,C00-D48,Neoplasms
79143,Isolated congenital anonychia,C0265998,ANONYCHIA,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
79145,Dowling-Degos disease,C3714534,dowling-degos disease,,
79147,Familial reactive perforating collagenosis,C1857624,"COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING",,
79148,Elastosis perforans serpiginosa,C0221271,Elastosis perforans serpiginosa,L00-L99,Diseases of the skin and subcutaneous tissue
79151,Acrokeratosis verruciformis of Hopf,C0265971,Acrokeratosis Verruciformis of Hopf,,
79152,Disseminated superficial actinic porokeratosis,C0265970,"Porokeratosis, Disseminated Superficial Actinic",L00-L99,Diseases of the skin and subcutaneous tissue
79154,2-aminoadipic 2-oxoadipic aciduria,C1859817,2-AMINOADIPIC 2-OXOADIPIC ACIDURIA,,
79155,Hydroxykynureninuria,C0268474,Hydroxykynureninuria,,
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,C1855986,Hydroxylysinuria,,
79157,2-methylbutyryl-CoA dehydrogenase deficiency,C1864912,2-Methylbutyryl-CoA Dehydrogenase Deficiency,,
79159,Isobutyryl-CoA dehydrogenase deficiency,C1969809,Isobutyryl-CoA dehydrogenase deficiency,,
79189,Peroxisome biogenesis disorder,C1832200,Peroxisome biogenesis disorders,E00-E90,"Endocrine, nutritional and metabolic diseases"
792,X-linked retinoschisis,C0271091,"Retinoschisis, Juvenile, X-Linked",,
792,X-linked retinoschisis,C3714753,"RETINOSCHISIS 1, X-LINKED, JUVENILE",,
79213,Mucopolysaccharidosis,C0026703,Mucopolysaccharidoses,E00-E90,"Endocrine, nutritional and metabolic diseases"
79230,Hemochromatosis type 2,C0268060,Juvenile hemochromatosis,,
79230,Hemochromatosis type 2,C1865614,"HEMOCHROMATOSIS, TYPE 2A",,
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,C0268117,"Gout, HPRT-Related",,
79234,Crigler-Najjar syndrome type 1,C0010324,"Crigler Najjar syndrome, type 1",E00-E90,"Endocrine, nutritional and metabolic diseases"
79235,Crigler-Najjar syndrome type 2,C2931132,"Crigler Najjar syndrome, type 2",,
79237,Galactokinase deficiency,C0268155,Deficiency of galactokinase,E00-E90,"Endocrine, nutritional and metabolic diseases"
79238,Galactose epimerase deficiency,C0751161,UDPglucose 4-epimerase deficiency disease,,
79239,Classic galactosemia,C0268151,Classical galactosemia,,
79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,C0543514,Glycogen Storage Disease IXB,,
79241,Biotinidase deficiency,C0220754,Biotinidase Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
79242,Holocarboxylase synthetase deficiency,C0268581,Holocarboxylase Synthetase Deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
79243,Pyruvate dehydrogenase E1-alpha deficiency,C0034345,Pyruvate Dehydrogenase Complex Deficiency Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
79243,Pyruvate dehydrogenase E1-alpha deficiency,C0751597,"Ataxia with Lactic Acidosis, Type I",,
79243,Pyruvate dehydrogenase E1-alpha deficiency,C1839413,Pyruvate Dehydrogenase E1 Alpha Deficiency,,
79244,Pyruvate dehydrogenase E2 deficiency,C1855565,Pyruvate Dehydrogenase E2 Deficiency,,
79246,Pyruvate dehydrogenase phosphatase deficiency,C1837429,Pyruvate dehydrogenase phosphatase deficiency,,
79255,GM1 gangliosidosis type 1,C0085131,Gangliosidosis GM1,E00-E90,"Endocrine, nutritional and metabolic diseases"
79255,GM1 gangliosidosis type 1,C0268271,"Gangliosidosis, Generalized GM1, Type 1 (disorder)",,
79255,GM1 gangliosidosis type 1,C1968748,"Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",,
79256,GM1 gangliosidosis type 2,C0268272,"Gangliosidosis, Generalized GM1, Type 2",,
79257,GM1 gangliosidosis type 3,C0268273,"Gangliosidosis, Generalized GM1, Type 3",,
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,C0017920,Glycogen Storage Disease Type I,E00-E90,"Endocrine, nutritional and metabolic diseases"
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,C2919796,Glycogen storage disease type Ia,,
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,C0268146,Glucose-6-phosphate transport defect,,
79262,Adult neuronal ceroid lipofuscinosis,C0022797,Adult Neuronal Ceroid Lipofuscinosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
79263,Infantile neuronal ceroid lipofuscinosis,C0268281,Infantile neuronal ceroid lipofuscinosis,,
79263,Infantile neuronal ceroid lipofuscinosis,C2931673,"Ceroid lipofuscinosis, neuronal 1, infantile",,
79264,Juvenile neuronal ceroid lipofuscinosis,C0751383,Juvenile Neuronal Ceroid Lipofuscinosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
79269,Sanfilippo syndrome type A,C0086647,Mucopolysaccharidosis Type IIIA,E00-E90,"Endocrine, nutritional and metabolic diseases"
79270,Sanfilippo syndrome type B,C0086648,MPS III B,E00-E90,"Endocrine, nutritional and metabolic diseases"
79271,Sanfilippo syndrome type C,C0086649,MPS III C,E00-E90,"Endocrine, nutritional and metabolic diseases"
79272,Sanfilippo syndrome type D,C0086650,MPS III D,E00-E90,"Endocrine, nutritional and metabolic diseases"
79273,Hereditary coproporphyria,C0162531,Hereditary Coproporphyria,E00-E90,"Endocrine, nutritional and metabolic diseases"
79273,Hereditary coproporphyria,C0342859,Harderoporphyria,,
79276,Acute intermittent porphyria,C0162565,Acute intermittent porphyria,,
79276,Acute intermittent porphyria,C1867969,"Porphyria, Acute Intermittent, Nonerythroid Variant",,
79276,Acute intermittent porphyria,C2936779,Hydroxymethylbilane Synthase Deficiency,,
79277,Congenital erythropoietic porphyria,C0162530,"Porphyria, Erythropoietic",E00-E90,"Endocrine, nutritional and metabolic diseases"
79277,Congenital erythropoietic porphyria,C2718078,Deficiency of Uroporphyrinogen III Synthase,,
79278,Autosomal erythropoietic protoporphyria,C0162568,Erythropoietic Protoporphyria,E00-E90,"Endocrine, nutritional and metabolic diseases"
79278,Autosomal erythropoietic protoporphyria,C0349426,Ferrochelatase deficiency,,
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,C1836544,"Schindler Disease, Type I",,
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,C1836545,"Schindler Disease, Type III",,
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,C1836522,"Schindler Disease, Type II",,
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,C1836545,"Schindler Disease, Type III",,
79282,"Methylmalonic acidemia with homocystinuria, type cblC",C1848561,Methylmalonic acidemia with homocystinuria,,
79283,"Methylmalonic acidemia with homocystinuria, type cblD",C1848552,"Methylmalonic Aciduria and Homocystinuria, CblD Type",,
79283,"Methylmalonic acidemia with homocystinuria, type cblD",C1848553,"Homocystinuria, CblD Type, Variant 1",,
79283,"Methylmalonic acidemia with homocystinuria, type cblD",C1848554,"Methylmalonic Aciduria, CblD Type, Variant 2",,
79284,Methylmalonic acidemia with homocystinuria type cblF,C1848578,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",,
79292,Fish-eye disease,C0342895,Fish-Eye Disease,,
79293,Familial LCAT deficiency,C0023195,Lecithin Acyltransferase Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
793,SAPHO syndrome,C0263859,"Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome",,
79301,Congenital bile acid synthesis defect type 1,C1843116,"Bile acid synthesis defect, congenital, 1",,
79302,Congenital bile acid synthesis defect type 3,C3151147,"Bile Acid Synthesis Defect, Congenital, 3",,
79303,Congenital bile acid synthesis defect type 2,C1856127,"Bile acid synthesis defect, congenital, 2",,
79304,Progressive familial intrahepatic cholestasis type 2,C3489789,"Cholestasis, Progressive Familial Intrahepatic, 2",,
79305,Progressive familial intrahepatic cholestasis type 3,C1865643,"Cholestasis, progressive familial intrahepatic 3",,
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,C1855109,Methylmalonic aciduria cblA type,,
79314,L-2-hydroxyglutaric aciduria,C1855995,L-2-HYDROXYGLUTARIC ACIDURIA,,
79314,L-2-hydroxyglutaric aciduria,C3888081,L-2-hydroxyglutaric acidemia,,
79315,D-2-hydroxyglutaric aciduria,C3152055,D-2-HYDROXYGLUTARIC ACIDURIA 1,,
79318,PMM2-CDG,C0349653,Congenital disorder of glycosylation type 1A,,
79319,MPI-CDG,C1865145,Congenital disorder of glycosylation type 1B,,
79320,ALG6-CDG,C2930997,Congenital disorder of glycosylation type 1C,,
79321,ALG3-CDG,C1832736,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",,
79322,DPM1-CDG,C1837396,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie",,
79323,MPDU1-CDG,C1836669,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If",,
79324,ALG12-CDG,C2931001,Congenital disorder of glycosylation type 1G,,
79325,ALG8-CDG,C2931002,Congenital disorder of glycosylation type 1H,,
79326,ALG2-CDG,C1842836,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",,
79327,ALG1-CDG,C2931005,Congenital disorder of glycosylation type 1K,,
79328,ALG9-CDG,C2931006,Congenital disorder of glycosylation type 1L,,
79329,MGAT2-CDG,C2931008,Congenital disorder of glycosylation type 2A,,
79330,MOGS-CDG,C1853736,"Congenital Disorder Of Glycosylation, Type IIB",,
79332,B4GALT1-CDG,C2931009,Congenital disorder of glycosylation type 2D,,
79333,COG7-CDG,C2931010,Congenital disorder of glycosylation type 2E,,
79345,Brachytelephalangic chondrodysplasia punctata,C1844853,Brachytelephalangic Chondrodysplasia Punctata,,
79350,3-phosphoserine phosphatase deficiency,C1291463,Deficiency of phosphoserine phosphatase,,
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",C0580190,3-Phosphoglycerate dehydrogenase deficiency,,
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",C1866174,Phosphoglycerate Dehydrogenase Deficiency,,
79361,Inherited epidermolysis bullosa,C1274224,Inherited epidermolysis bullosa,,
79373,Ectodermal dysplasia syndrome,C0013575,Ectodermal Dysplasia,,
79394,Congenital non-bullous ichthyosiform erythroderma,C0079154,Congenital Nonbullous Ichthyosiform Erythroderma,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
79395,Keratoderma hereditarium mutilans with ichthyosis,C1858805,"Vohwinkel Syndrome, Variant Form",,
79396,"Epidermolysis bullosa simplex, generalized severe",C0079295,Epidermolysis Bullosa Herpetiformis Dowling-Meara,,
79397,Epidermolysis bullosa simplex with mottled pigmentation,C0432316,Epidermolysis bullosa simplex with mottled pigmentation,,
79399,"Epidermolysis bullosa simplex, generalized intermediate",C0079299,Epidermolysis Bullosa Simplex Kobner,,
794,Saethre-Chotzen syndrome,C0175699,Saethre-Chotzen Syndrome,,
794,Saethre-Chotzen syndrome,C1863370,Saethre-Chotzen Syndrome with Eyelid Anomalies,,
79400,Localized epidermolysis bullosa simplex,C0080333,Weber-Cockayne Syndrome,,
79401,"Epidermolysis bullosa simplex, Ogna type",C0432317,"Epidermolysis bullosa simplex, Ogna type",,
79403,Junctional epidermolysis bullosa-pyloric atresia syndrome,C1856934,Epidermolysis bullosa with pyloric atresia,,
79404,"Junctional epidermolysis bullosa, generalized severe",C0079683,Herlitz Disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
79405,Junctional epidermolysis bullosa inversa,C2673609,Epidermolysis bullosa inversa dystrophica,,
79406,Late-onset junctional epidermolysis bullosa,C4304724,Late-onset junctional epidermolysis bullosa,,
79408,Severe generalized recessive dystrophic epidermolysis bullosa,C0079474,Hallopeau-Siemens Disease,,
79408,Severe generalized recessive dystrophic epidermolysis bullosa,C2673611,"Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",,
79408,Severe generalized recessive dystrophic epidermolysis bullosa,C2673612,"Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",,
79410,Pretibial dystrophic epidermolysis bullosa,C0432321,"Epidermolysis bullosa, pretibial",,
79411,Transient bullous dermolysis of the newborn,C1851573,Transient bullous dermolysis of the newborn,,
79430,Hermansky-Pudlak syndrome,C0079504,Hermanski-Pudlak Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
79431,Oculocutaneous albinism type 1A,C0268494,Oculocutaneous albinism type 1,,
79432,Oculocutaneous albinism type 2,C0268495,Oculocutaneous albinism type 2,E00-E90,"Endocrine, nutritional and metabolic diseases"
79432,Oculocutaneous albinism type 2,C0268497,Brown oculocutaneous albinism,,
79433,Oculocutaneous albinism type 3,C0342683,"ALBINISM, OCULOCUTANEOUS, TYPE III",,
79433,Oculocutaneous albinism type 3,C2931599,Oculocutaneous albinism type 3,,
79434,Oculocutaneous albinism type 1B,C1847024,"ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",,
79434,Oculocutaneous albinism type 1B,C1847132,"ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",,
79435,Oculocutaneous albinism type 4,C1847836,"Oculocutaneous Albinism, Type IV",,
79443,Pseudohypoparathyroidism type 1A,C3494506,"Pseudohypoparathyroidism, Type Ia",,
79444,Pseudohypoparathyroidism type 1C,C2932716,Pseudohypoparathyroidism Type 1C,,
79445,Pseudopseudohypoparathyroidism,C0033835,Pseudopseudohypoparathyroidism,,
79452,Milroy disease,C1704423,Milroy Disease,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
79455,Cutaneous mastocytoma,C0343115,Skin Mastocytoma,C00-D48,Neoplasms
79456,Diffuse cutaneous mastocytosis,C0024901,"Mastocytosis, Diffuse Cutaneous",C00-D48,Neoplasms
79457,Maculopapular cutaneous mastocytosis,C0042111,Urticaria Pigmentosa,C00-D48,Neoplasms
79473,Porphyria variegata,C0162532,Variegate Porphyria,,
79473,Porphyria variegata,C2936913,"Porphyria, South African type",,
79476,Griscelli syndrome type 1,C1859194,"GRISCELLI SYNDROME, TYPE 1",,
79477,Griscelli syndrome type 2,C1868679,"GRISCELLI SYNDROME, TYPE 2",,
79478,Griscelli syndrome type 3,C1836573,"GRISCELLI SYNDROME, TYPE 3",,
79481,Pemphigus foliaceus,C0263313,Pemphigus Foliaceus,L00-L99,Diseases of the skin and subcutaneous tissue
79493,Brooke-Spiegler syndrome,C1305968,Eccrine dermal cylindroma,,
79493,Brooke-Spiegler syndrome,C1857941,Brooke-Spiegler syndrome,,
79499,Autosomal dominant deafness-onychodystrophy syndrome,C2675730,"Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",,
795,Rare form of salmonellosis,C0036117,Salmonella infections,A00-B99,Certain infectious and parasitic diseases
79500,DOORS syndrome,C0795927,"Deafness, congenital onychodystrophy, recessive form",,
79500,DOORS syndrome,C0795934,Digitorenocerebral Syndrome,,
79501,Punctate palmoplantar keratoderma type 1,C1835662,Keratosis palmoplantaris papulosa,,
79502,Punctate palmoplantar keratoderma type 2,C1867982,"KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II",,
79503,Ichthyosis hystrix of Curth-Macklin,C0432307,Ichthyosis hystrix of Curth-Macklin,,
79503,Ichthyosis hystrix of Curth-Macklin,C1840296,"Ichthyosis hystrix, Curth Macklin type",,
79507,Hypotonia-failure to thrive-microcephaly syndrome,C3279662,Leukotriene C4 Synthase Deficiency,,
796,Sandhoff disease,C0036161,Sandhoff Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
796,Sandhoff disease,C1849320,"Sandhoff Disease, Adult Type",,
796,Sandhoff disease,C1849321,"Sandhoff Disease, Juvenile Type",,
796,Sandhoff disease,C1849322,"Sandhoff Disease, Infantile Type",,
79665,Gardner syndrome,C0017097,Gardner Syndrome,,
797,Sarcoidosis,C0036202,Sarcoidosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
798,Schinzel-Giedion syndrome,C0265227,Schinzel-Giedion syndrome,,
799,Schizencephaly,C0266484,Schizencephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
8,"47,XYY syndrome",C3266843,"47, XYY syndrome",,
800,Schwartz-Jampel syndrome,C0036391,Schwartz-Jampel Syndrome,G00-G99,Diseases of the nervous system
801,Scleroderma,C0011644,Scleroderma,,
803,Amyotrophic lateral sclerosis,C0002736,Amyotrophic Lateral Sclerosis,G00-G99,Diseases of the nervous system
803,Amyotrophic lateral sclerosis,C1862939,AMYOTROPHIC LATERAL SCLEROSIS 1,,
803,Amyotrophic lateral sclerosis,C1862941,"Amyotrophic Lateral Sclerosis, Sporadic",,
803,Amyotrophic lateral sclerosis,C3542025,"AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",,
805,Tuberous sclerosis complex,C0041341,Tuberous Sclerosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
806,Scott syndrome,C0796149,Scott Syndrome,,
808,Seckel syndrome,C0265202,Seckel syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
809,Mixed connective tissue disease,C0026272,Mixed Connective Tissue Disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
810,Shigellosis,C0013371,Shigella Infections,A00-B99,Certain infectious and parasitic diseases
811,Shwachman-Diamond syndrome,C0272170,Shwachman syndrome,,
812,Sialidosis type 1,C0023806,Lipomucopolysaccharidosis,,
812,Sialidosis type 1,C0268226,Type I Mucolipidosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
813,Silver-Russell syndrome,C0175693,Russell-Silver syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
816,Sjögren-Larsson syndrome,C0037231,Sjogren-Larsson Syndrome,,
816,Sjögren-Larsson syndrome,C0347915,Congenital malformation syndromes associated with short stature,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
817,Peeling skin syndrome,C1849193,PEELING SKIN SYNDROME,,
818,Smith-Lemli-Opitz syndrome,C0175694,Smith-Lemli-Opitz Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
818,Smith-Lemli-Opitz syndrome,C2713347,7-Dehydrocholesterol Reductase Deficiency,,
819,Smith-Magenis syndrome,C0795864,Smith-Magenis syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
820,Sneddon syndrome,C0282492,Sneddon Syndrome,,
821,Sotos syndrome,C0175695,Sotos\' syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
822,Hereditary spherocytosis,C0037889,Hereditary spherocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
822,Hereditary spherocytosis,C0221409,"Anemia, hereditary spherocytic hemolytic",,
822,Hereditary spherocytosis,C2674218,"SPHEROCYTOSIS, TYPE 1 (disorder)",,
823,Isolated spina bifida,C0080178,Spina Bifida,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
824,Primary myelofibrosis,C0001815,Primary Myelofibrosis,C00-D48,Neoplasms
824,Primary myelofibrosis,C0026987,Myelofibrosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
827,Stargardt disease,C0271093,Stargardt\'s disease,H00-H59,Diseases of the eye and adnexa
827,Stargardt disease,C1855465,STARGARDT DISEASE 1 (disorder),,
827,Stargardt disease,C1858080,"Retinal Dystrophy, Early Onset Severe",,
827,Stargardt disease,C4282180,Juvenile macular degeneration,,
828,Stickler syndrome,C0265253,Stickler syndrome (disorder),,
828,Stickler syndrome,C2020284,"Stickler syndrome, type 1",,
829,Adult-onset Still disease,C0085253,Adult-Onset Still Disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
83,Antley-Bixler syndrome,C2936791,"Antley-Bixler Syndrome, Autosomal Dominant",,
832,Succinyl-CoA:3-ketoacid CoA transferase deficiency,C0342792,Succinyl-CoA:3-oxoacid CoA transferase deficiency,,
83311,Rocky Mountain spotted fever,C0035793,Rocky Mountain Spotted Fever,A00-B99,Certain infectious and parasitic diseases
83313,Boutonneuse fever,C0006060,Boutonneuse Fever,A00-B99,Certain infectious and parasitic diseases
83317,Scrub typhus,C0036472,Scrub Typhus,A00-B99,Certain infectious and parasitic diseases
83330,Proximal spinal muscular atrophy type 1,C0043116,HMN (Hereditary Motor Neuropathy) Proximal Type I,G00-G99,Diseases of the nervous system
834,Free sialic acid storage disease,C0342853,Sialuria,,
834,Free sialic acid storage disease,C1096903,"Sialic Acid Storage Disease, Finnish Type (disorder)",,
834,Free sialic acid storage disease,C2931872,Free sialic acid storage disease,,
83418,Proximal spinal muscular atrophy type 2,C0393538,"Muscular Atrophy, Spinal, Type II",,
83418,Proximal spinal muscular atrophy type 2,C2931358,"Muscular atrophy, spinal, infantile chronic form",,
83419,Proximal spinal muscular atrophy type 3,C0152109,Juvenile Spinal Muscular Atrophy,,
83420,Proximal spinal muscular atrophy type 4,C1838230,"SPINAL MUSCULAR ATROPHY, TYPE IV",G00-G99,Diseases of the nervous system
83452,Complex regional pain syndrome,C0458219,Complex Regional Pain Syndromes,,
83454,Glomuvenous malformation,C0017653,Glomus Tumor,,
83454,Glomuvenous malformation,C1841984,GLOMUVENOUS MALFORMATIONS,,
83461,Congenital primary aphakia,C0152422,Congenital aphakia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
83461,Congenital primary aphakia,C1853230,"Aphakia, congenital primary",,
83463,Microtia,C0152423,Congenital small ears,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
83468,Solitary bone cyst,C0005937,Bone Cysts,M00-M99,Diseases of the musculoskeletal system and connective tissue
83469,Desmoplastic small round cell tumor,C0281508,Desmoplastic Small Round Cell Tumor,,
83471,Thymic aplasia,C0685894,Congenital absence of thymus,,
83471,Thymic aplasia,C1744558,T-lymphocyte deficiency,,
83472,CAMOS syndrome,C1847114,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",,
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,C1863924,Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome,,
83476,West-Nile encephalitis,C0043124,West Nile Fever,A00-B99,Certain infectious and parasitic diseases
83476,West-Nile encephalitis,C0751583,"Encephalitis, West Nile Fever",A00-B99,Certain infectious and parasitic diseases
83484,St. Louis encephalitis,C0014060,"Encephalitis, St. Louis",A00-B99,Certain infectious and parasitic diseases
83597,Acute disseminated encephalomyelitis,C0014059,"Encephalomyelitis, Acute Disseminated",,
83600,Encephalitis lethargica,C0014040,Encephalitis Lethargica,A00-B99,Certain infectious and parasitic diseases
83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,C0393639,Hashimoto\'s encephalitis,,
83620,Enteric anendocrinosis,C1835888,"Diarrhea 4, Malabsorptive, Congenital",,
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,C1853205,Glycosylphosphatidylinositol deficiency,,
83642,Microcytic anemia with liver iron overload,C2673913,"Anemia, Hypochromic Microcytic, With Iron Overload",,
83642,Microcytic anemia with liver iron overload,C3806153,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",,
839,"Congenital nephrotic syndrome, Finnish type",C0403399,Finnish congenital nephrotic syndrome,,
839,"Congenital nephrotic syndrome, Finnish type",C3501848,"Nephrosis, congenital",N00-N99,Diseases of the genitourinary system
84,Fanconi anemia,C0015625,Fanconi Anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
84,Fanconi anemia,C1856796,Estren-Dameshek Variant of Fanconi Anemia,,
84,Fanconi anemia,C1856797,Estren-Dameshek Variant of Fanconi Pancytopenia,,
84,Fanconi anemia,C3469521,"FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",,
840,Syringocystadenoma papilliferum,C0406803,Syringocystadenoma Papilliferum,,
84064,Syndromic diarrhea,C1857276,Trichohepatoenteric Syndrome,,
84090,Fibronectin glomerulopathy,C1866075,GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder),,
84090,Fibronectin glomerulopathy,C3888104,Glomerulopathy with fibronectin deposits,,
841,Sebocystomatosis,C0259771,Steatocystoma multiplex,L00-L99,Diseases of the skin and subcutaneous tissue
841,Sebocystomatosis,C3671377,Sebocystomatosis,,
84142,Isaac syndrome,C0242287,Isaacs syndrome,,
84142,Isaac syndrome,C0751919,Acquired Neuromyotonia,,
842,Testicular seminomatous germ cell tumor,C0036631,Seminoma,,
844,Lown-Ganong-Levine syndrome,C0024054,Lown-Ganong-Levine Syndrome,I00-I99,Diseases of the circulatory system
845,Tay-Sachs disease,C0039373,Tay-Sachs Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
845,Tay-Sachs disease,C1848913,"Tay-Sachs Disease, Juvenile",,
845,Tay-Sachs disease,C1848914,"Hexosaminidase A Deficiency, Adult Type",,
845,Tay-Sachs disease,C1848916,"Tay-Sachs Disease, Variant B1",,
845,Tay-Sachs disease,C1848922,Hexosaminidase alpha-Subunit Deficiency (Variant B),,
845,Tay-Sachs disease,C2749283,"Gm2-Gangliosidosis, Variant B1",,
846,Alpha-thalassemia,C0002312,alpha-Thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
846,Alpha-thalassemia,C1456873,alpha^+^ Thalassemia,,
847,Alpha-thalassemia-X-linked intellectual disability syndrome,C1845055,"ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",,
848,Beta-thalassemia,C0005283,beta Thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
849,Glanzmann thrombasthenia,C0040015,Thrombasthenia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
85,Congenital dyserythropoietic anemia,C0002876,Congenital dyserythropoietic anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
851,Paris-Trousseau thrombocytopenia,C1956093,Paris-Trousseau Thrombocytopenia,,
85110,Familial encephalopathy with neuroserpin inclusion bodies,C1858680,Familial encephalopathy with neuroserpin inclusion bodies,,
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,C2674504,Palmoplantar Hyperkeratosis And True Hermaphroditism,,
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,C3149931,"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL",,
85128,Bothnia retinal dystrophy,C1843816,Bothnia Retinal Dystrophy,,
85136,Cystic leukoencephalopathy without megalencephaly,C2751843,"Leukoencephalopathy, Cystic, Without Megalencephaly",,
85138,Addison disease,C0001403,Addison Disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
85138,Addison disease,C0266273,Congenital absence of adrenal gland,,
85138,Addison disease,C0271737,Addison\'s disease due to autoimmunity,E00-E90,"Endocrine, nutritional and metabolic diseases"
85138,Addison disease,C1846223,Adrenal hypoplasia,,
85138,Addison disease,C1868690,"Hypoadrenocorticism, familial",,
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",C1867005,"Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",,
85163,Hypomyelination-congenital cataract syndrome,C1864663,HYPOMYELINATION AND CONGENITAL CATARACT,,
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,C1864852,CATSHL syndrome,,
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,C2674173,"Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans",,
85166,"Platyspondylic dysplasia, Torrance type",C1835437,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",,
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,C1837073,Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy,,
85169,Familial digital arthropathy-brachydactyly,C1847406,"Digital Arthropathy-Brachydactyly, Familial",,
85173,IMAGe syndrome,C1846009,"Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",,
85179,Infantile osteopetrosis with neuroaxonal dysplasia,C1838258,Osteopetrosis and infantile neuroaxonal dystrophy,,
85179,Infantile osteopetrosis with neuroaxonal dysplasia,C1968603,"Osteopetrosis, Autosomal Recessive 5",,
85184,"Craniometadiaphyseal dysplasia, wormian bone type",C0265292,Schwartz-Lelek syndrome,,
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,C1859301,Cerebellar hypoplasia with endosteal sclerosis,,
85191,Singleton-Merten dysplasia,C0432254,Singleton Merten syndrome,,
85191,Singleton-Merten dysplasia,C4225427,SINGLETON-MERTEN SYNDROME 1,,
85193,Idiopathic juvenile osteoporosis,C0264080,Juvenile osteoporosis,,
85194,Spondylo-ocular syndrome,C1853925,"Spondyloocular Syndrome, Autosomal Recessive",,
85194,Spondylo-ocular syndrome,C4225412,Spondylo-ocular syndrome,,
85198,Dysspondyloenchondromatosis,C4302548,Dysspondyloenchondromatosis,,
85201,Genitopatellar syndrome,C1853566,Genitopatellar Syndrome,,
85202,Keutel syndrome,C1855607,Keutel syndrome,,
85212,Fetal Gaucher disease,C1842704,"GAUCHER DISEASE, PERINATAL LETHAL",,
85277,"X-linked intellectual disability, Cantagrel type",C3806730,"MENTAL RETARDATION, X-LINKED 98",,
85278,Christianson syndrome,C1846130,"Mental retardation X-linked, South African type",,
85278,Christianson syndrome,C2678194,"Mental Retardation, X-Linked, Syndromic, Christianson Type",,
85279,Syndromic X-linked intellectual disability due to JARID1C mutation,C1845243,"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE",,
85282,MEHMO syndrome,C1846278,"MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)",,
85283,"X-linked intellectual disability, Miles-Carpenter type",C0796200,Wieacker-Wolff syndrome,,
85283,"X-linked intellectual disability, Miles-Carpenter type",C1839735,MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME,,
85284,BRESEK syndrome,C3502469,"Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",,
85286,"X-linked intellectual disability, Shashi type",C1846145,"MENTAL RETARDATION, X-LINKED, SYNDROMIC 11",,
85287,"X-linked intellectual disability, Siderius type",C1846055,Siderius X-linked mental retardation syndrome,,
85288,"X-linked intellectual disability, Stocco Dos Santos type",C1845530,Stocco dos Santos syndrome,,
85293,"X-linked intellectual disability, Cabezas type",C1845861,"MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT",,
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,C1845343,"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders",,
853,Fetal and neonatal alloimmune thrombocytopenia,C3853779,Neonatal Alloimmune Thrombocytopenia,,
853,Fetal and neonatal alloimmune thrombocytopenia,C3854603,FNAITP,,
85321,"Deafness-intellectual disability syndrome, Martin-Probst type",C1845285,Martin-Probst Deafness-Mental Retardation Syndrome,,
85328,"X-linked intellectual disability, Turner type",C2678046,"Mental Retardation, X-Linked, Syndromic, Turner Type",,
85335,Fried syndrome,C4305134,Fried syndrome,,
854,Primitive portal vein thrombosis,C0155773,Portal vein thrombosis,I00-I99,Diseases of the circulatory system
85410,Oligoarticular juvenile idiopathic arthritis,C0157917,Pauciarticular juvenile rheumatoid arthritis,M00-M99,Diseases of the musculoskeletal system and connective tissue
85410,Oligoarticular juvenile idiopathic arthritis,C2931171,Juvenile pauciarticular chronic arthritis,,
85414,Systemic-onset juvenile idiopathic arthritis,C0087031,Juvenile-Onset Still Disease,M00-M99,Diseases of the musculoskeletal system and connective tissue
85414,Systemic-onset juvenile idiopathic arthritis,C1384600,Systemic onset juvenile chronic arthritis,M00-M99,Diseases of the musculoskeletal system and connective tissue
85414,Systemic-onset juvenile idiopathic arthritis,C1858558,"Rheumatoid Arthritis, Systemic Juvenile",,
85438,Enthesitis-related juvenile idiopathic arthritis,C3495919,Enthesitis-Related Arthritis,,
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,C2678408,"PITUITARY HORMONE DEFICIENCY, COMBINED, 4",,
85443,AL amyloidosis,C0268381,Primary amyloidosis,,
85445,AA amyloidosis,C0221014,Reactive systemic amyloidosis,,
85447,ATTRV30M amyloidosis,C0206245,"Amyloid Neuropathies, Familial",E00-E90,"Endocrine, nutritional and metabolic diseases"
85447,ATTRV30M amyloidosis,C2751492,"AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",,
85447,ATTRV30M amyloidosis,C3151470,"AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",,
85447,ATTRV30M amyloidosis,C3151471,"AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",,
85448,AGel amyloidosis,C0936273,"Familial Amyloid Polyneuropathy, Type IV",,
85448,AGel amyloidosis,C1622345,Meretoja syndrome,,
85448,AGel amyloidosis,C1628319,Lattice corneal dystrophy Type II,,
85448,AGel amyloidosis,C2751493,"Cerebral Amyloid Angiopathy, Gsn-Related",,
85450,Hereditary amyloidosis with primary renal involvement,C0268389,"Amyloidosis, familial visceral",,
85451,ATTRV122I amyloidosis,C4275067,Transthyretin related familial amyloid cardiomyopathy,,
85453,X-linked reticulate pigmentary disorder,C0796250,PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME,,
85453,X-linked reticulate pigmentary disorder,C1845050,"PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",,
85458,Hereditary cerebral hemorrhage with amyloidosis,C1510489,"Cerebral Amyloid Angiopathy, Hereditary",,
857,Townes-Brocks syndrome,C0265246,Townes syndrome,,
857,Townes-Brocks syndrome,C1862683,Townes-Brocks-Branchiootorenal-Like Syndrome,,
857,Townes-Brocks syndrome,C4479534,TOWNES-BROCKS SYNDROME 2,,
858,Congenital toxoplasmosis,C0040560,"Toxoplasmosis, Congenital",P00-P96,Certain conditions originating in the perinatal period
859,Transcobalamin deficiency,C0342701,Transcobalamin II deficiency,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
861,Treacher-Collins syndrome,C0242387,Mandibulofacial Dysostosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
861,Treacher-Collins syndrome,C0265241,Franceschetti-Klein syndrome,,
863,Trichinellosis,C0040896,Trichinellosis,A00-B99,Certain infectious and parasitic diseases
86309,DPAGT1-CDG,C2931004,Congenital disorder of glycosylation type 1J,,
867,Familial multiple trichoepithelioma,C1275122,Familial multiple trichoepitheliomata,,
86788,X-linked severe congenital neutropenia,C1845987,"Neutropenia, Severe Congenital, X-Linked",,
86789,Patella aplasia/hypoplasia,C1868577,Patella aplasia-hypoplasia,,
868,Triose phosphate-isomerase deficiency,C0398562,Triose phosphate isomerase deficiency,,
868,Triose phosphate-isomerase deficiency,C1860808,Triosephosphate Isomerase Deficiency,,
86812,POMT1-related  limb-girdle muscular dystrophy R11,C1836373,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",,
86813,Helicoid peripapillary chorioretinal degeneration,C1862382,SVEINSSON CHORIORETINAL ATROPHY,,
86814,Benign adult familial myoclonic epilepsy,C1832841,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",,
86816,Congenital analbuminemia,C0878666,Analbuminemia,,
86817,Hemolytic anemia due to adenylate kinase deficiency,C2675459,"Adenylate Kinase Deficiency, Hemolytic Anemia Due To",,
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,C1846242,"Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",,
86820,Familial avascular necrosis of femoral head,C0410480,Avascular Necrosis of Femur Head,,
86820,Familial avascular necrosis of femoral head,C4479260,"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",,
86823,Lissencephaly with cerebellar hypoplasia,C4274995,Lissencephaly with cerebellar hypoplasia,,
86829,Chronic neutrophilic leukemia,C0023481,Chronic Neutrophilic Leukemia,C00-D48,Neoplasms
86830,"Chronic myeloproliferative disease, unclassifiable",C1333046,"Myeloproliferative Neoplasm, Unclassifiable",,
86834,Juvenile myelomonocytic leukemia,C0023480,"Leukemia, Myelomonocytic, Chronic",C00-D48,Neoplasms
86834,Juvenile myelomonocytic leukemia,C0349639,Juvenile Myelomonocytic Leukemia,C00-D48,Neoplasms
86836,Refractory cytopenia with multilineage dysplasia,C0796466,Refractory cytopenia with multilineage dysplasia,C00-D48,Neoplasms
86839,Refractory anemia with excess blasts,C0002894,Refractory anaemia with excess blasts,C00-D48,Neoplasms
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,C0740302,5q-syndrome,,
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,C1292779,Myelodysplastic Syndrome with Isolated del(5q),C00-D48,Neoplasms
86843,Acute panmyelosis with myelofibrosis,C0334674,Acute panmyelosis with myelofibrosis,C00-D48,Neoplasms
86845,Acute myeloid leukaemia with myelodysplasia-related features,C1292773,Acute myeloid leukemia with multilineage dysplasia,C00-D48,Neoplasms
86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,C1292776,Therapy-related acute myeloid leukemia and myelodysplastic syndrome,,
86849,Acute basophilic leukemia,C0023437,Acute Basophilic Leukemia,C00-D48,Neoplasms
86850,Myeloid sarcoma,C0152276,Granulocytic Sarcoma,C00-D48,Neoplasms
86852,B-cell prolymphocytic leukemia,C0475801,"Leukemia, Prolymphocytic, B-Cell",C00-D48,Neoplasms
86854,Splenic marginal zone lymphoma,C0349632,Splenic Marginal Zone B-Cell Lymphoma,C00-D48,Neoplasms
86855,Plasmacytoma,C0032131,Plasmacytoma,C00-D48,Neoplasms
86864,Heavy chain disease,C0018852,Heavy Chain Disease,C00-D48,Neoplasms
86867,Nodal marginal zone B-cell lymphoma,C0855139,Monocytoid B-cell lymphoma,C00-D48,Neoplasms
86872,T-cell large granular lymphocyte leukemia,C1522378,"Leukemia, Large Granular Lymphocytic",,
86872,T-cell large granular lymphocyte leukemia,C1955861,T-Cell Large Granular Lymphocyte Leukemia,,
86873,Aggressive NK-cell leukemia,C1292777,Aggressive natural killer-cell leukemia,C00-D48,Neoplasms
86873,Aggressive NK-cell leukemia,C1522378,"Leukemia, Large Granular Lymphocytic",,
86875,Adult T-cell leukemia/lymphoma,C0023493,Adult T-Cell Lymphoma/Leukemia,C00-D48,Neoplasms
86879,Extranodal nasal NK/T cell lymphoma,C0018197,"Granuloma, Lethal Midline",M00-M99,Diseases of the musculoskeletal system and connective tissue
86879,Extranodal nasal NK/T cell lymphoma,C0392788,Nasal Type Extranodal NK/T-Cell Lymphoma,C00-D48,Neoplasms
86879,Extranodal nasal NK/T cell lymphoma,C1955906,"Lymphoma, Extranodal NK-T-Cell",,
86880,Enteropathy-associated T-cell lymphoma,C0456889,Enteropathy-Associated T-Cell Lymphoma,C00-D48,Neoplasms
86882,Hepatosplenic T-cell lymphoma,C1333984,Hepatosplenic T-cell lymphoma,C00-D48,Neoplasms
86884,Subcutaneous panniculitis-like T-cell lymphoma,C0024306,"Lymphoma, Undifferentiated",,
86884,Subcutaneous panniculitis-like T-cell lymphoma,C0522624,Subcutaneous panniculitis-like T-cell lymphoma,C00-D48,Neoplasms
86886,Angioimmunoblastic T-cell lymphoma,C0020981,Angioimmunoblastic Lymphadenopathy,C00-D48,Neoplasms
86893,Nodular lymphocyte predominant Hodgkin lymphoma,C1334968,Nodular Lymphocyte Predominant Hodgkin Lymphoma,C00-D48,Neoplasms
86893,Nodular lymphocyte predominant Hodgkin lymphoma,C2239290,"Hodgkin lymphoma, nodular lymphocyte predominance",,
86896,Histiocytic sarcoma,C0334663,Histiocytic sarcoma,C00-D48,Neoplasms
869,Triple A syndrome,C0271742,Glucocorticoid deficiency with achalasia,,
86900,Interdigitating dendritic cell sarcoma,C0024302,Reticulosarcoma,,
86900,Interdigitating dendritic cell sarcoma,C1260326,"Dendritic Cell Sarcoma, Interdigitating",C00-D48,Neoplasms
86902,Follicular dendritic cell sarcoma,C1260325,"Dendritic Cell Sarcoma, Follicular",C00-D48,Neoplasms
86909,Myoclonic epilepsy of infancy,C0751120,Benign Infantile Myoclonic Epilepsy,,
86909,Myoclonic epilepsy of infancy,C0917800,"Epilepsy, Myoclonic, Infantile",,
86920,Dermatopathia pigmentosa reticularis,C0406778,Dermatopathia pigmentosa reticularis,,
86923,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type",C1855644,"Keratoderma, Palmoplantar, Norrbotten Recessive Type",,
87,Apert syndrome,C0001193,Apert syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
87,Apert syndrome,C1510455,Acrocephalosyndactylia,,
87,Apert syndrome,C1863389,Apert-Crouzon Disease,,
870,Down syndrome,C0013080,Down Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
870,Down syndrome,C1860787,DOWN SYNDROME CRITICAL REGION,,
870,Down syndrome,C1860788,Transient Myeloproliferative Disorder of Down Syndrome,,
870,Down syndrome,C1860789,"Leukemia, Megakaryoblastic, of Down Syndrome",,
871,Familial progressive cardiac conduction defect,C1861983,"Heart Block, Nonprogressive",,
871,Familial progressive cardiac conduction defect,C1861984,"Cardiac Conduction Defect, Nonprogressive",,
871,Familial progressive cardiac conduction defect,C1879286,Hereditary bundle branch system defect,,
873,Desmoid tumor,C0079218,"Fibromatosis, Aggressive",,
87503,Mal de Meleda,C0025221,Meleda Disease,,
877,Neuroendocrine neoplasm,C0003650,Apudoma,,
877,Neuroendocrine neoplasm,C0014132,Endocrine Gland Neoplasms,,
877,Neuroendocrine neoplasm,C0206754,Neuroendocrine Tumors,C00-D48,Neoplasms
87876,Sialidosis type 2,C0023806,Lipomucopolysaccharidosis,,
87876,Sialidosis type 2,C0268226,Type I Mucolipidosis,E00-E90,"Endocrine, nutritional and metabolic diseases"
87876,Sialidosis type 2,C0268228,Neuraminidase 1 deficiency,,
87876,Sialidosis type 2,C3888317,"Sialidosis, type 2",,
87876,Sialidosis type 2,C4282398,Sialidase deficiency,,
87884,Non-syndromic genetic deafness,C0018784,Sensorineural Hearing Loss (disorder),H60-H95,Diseases of the ear and mastoid process
88,Idiopathic aplastic anemia,C0002874,Aplastic Anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
88,Idiopathic aplastic anemia,C0348890,"Aplastic anemia, idiopathic",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
88,Idiopathic aplastic anemia,C0702159,Constitutional aplastic anemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
88,Idiopathic aplastic anemia,C2684859,"APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)",,
881,Turner syndrome,C0041408,Turner Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
881,Turner syndrome,C0242526,"Gonadal Dysgenesis, 45,X",,
882,Tyrosinemia type 1,C0268490,"Tyrosinemia, Type I",,
884,Tetrasomy 12p,C0265449,Pallister-Killian syndrome,,
886,Usher syndrome,C0271097,Usher Syndrome,,
88618,Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency,C3151058,S-adenosylhomocysteine hydrolase deficiency,,
88619,Familial acute necrotizing encephalopathy,C2675556,"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3",,
88620,Isolated congenital anosmia,C0393778,Congenital anosmia,,
88621,Ichthyosis-prematurity syndrome,C1837610,ICHTHYOSIS PREMATURITY SYNDROME,,
88628,Posterior column ataxia-retinitis pigmentosa syndrome,C1836916,POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA,,
88629,Tritanopia,C0155017,"Color Blindness, Blue",H00-H59,Diseases of the eye and adnexa
88630,Terminal osseous dysplasia-pigmentary defects syndrome,C1846129,Terminal Osseous Dysplasia and Pigmentary Defects,,
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,C4015624,"MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",,
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,C2676243,"Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",,
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,C0342738,Beta-Hydroxyisobutyryl CoA Deacylase Deficiency,,
88642,Channelopathy-associated congenital insensitivity to pain,C0002768,Congenital Pain Insensitivity,,
88642,Channelopathy-associated congenital insensitivity to pain,C0020075,"Hereditary Sensory Autonomic Neuropathy, Type 5",,
88642,Channelopathy-associated congenital insensitivity to pain,C0027889,Hereditary Sensory and Autonomic Neuropathies,,
88642,Channelopathy-associated congenital insensitivity to pain,C1855739,"Indifference to Pain, Congenital, Autosomal Recessive",,
88642,Channelopathy-associated congenital insensitivity to pain,C4012054,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID",,
88644,"Autosomal recessive ataxia, Beauce type",C1853116,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",,
88644,"Autosomal recessive ataxia, Beauce type",C3683483,Autosomal Recessive Cerebellar Ataxia Type 1,,
88659,Autosomal dominant progressive nephropathy with hypertension,C0403443,"Renal Failure, Progressive, with Hypertension",,
88661,Amelogenesis imperfecta,C0002452,Amelogenesis Imperfecta,K00-K93,Diseases of the digestive system
88673,Hepatocellular carcinoma,C0206624,Hepatoblastoma,C00-D48,Neoplasms
88673,Hepatocellular carcinoma,C0345904,Malignant neoplasm of liver,C00-D48,Neoplasms
88673,Hepatocellular carcinoma,C2239176,Liver carcinoma,C00-D48,Neoplasms
88673,Hepatocellular carcinoma,C2676033,Hepatoblastoma Caused By Somatic Mutation,,
887,VACTERL/VATER association,C0220708,VATER Association,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
887,VACTERL/VATER association,C1735591,VACTERL Association,,
887,VACTERL/VATER association,C4225671,VATER/VACTERL ASSOCIATION,,
888,Van der Woude syndrome,C0175697,Van der Woude syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
889,Cutaneous small vessel vasculitis,C0151436,"Vasculitis, Leukocytoclastic, Cutaneous",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
889,Cutaneous small vessel vasculitis,C0151436,"Vasculitis, Leukocytoclastic, Cutaneous",M00-M99,Diseases of the musculoskeletal system and connective tissue
88917,X-linked Alport syndrome,C1567741,Alport Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
88917,X-linked Alport syndrome,C1567742,"Alport Syndrome, X-Linked",,
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,C1838327,"Polycystic kidneys, severe infantile with tuberous sclerosis",,
88991,Rare congenital non-syndromic heart malformation,C0018798,Congenital Heart Defects,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
890,Hepatic veno-occlusive disease,C0019156,Hepatic Veno-Occlusive Disease,K00-K93,Diseases of the digestive system
891,Familial exudative vitreoretinopathy,C0339539,Familial Exudative Vitreoretinopathy,,
891,Familial exudative vitreoretinopathy,C1851402,Exudative vitreoretinopathy 1,,
892,Von Hippel-Lindau disease,C0019562,Von Hippel-Lindau Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
893,WAGR syndrome,C0206115,WAGR Syndrome,,
893,WAGR syndrome,C2931803,Deletion 11p13,,
894,Waardenburg syndrome type 1,C1847800,Waardenburg Syndrome Type 1,,
895,Waardenburg syndrome type 2,C1860339,"WAARDENBURG SYNDROME, TYPE IIA",,
895,Waardenburg syndrome type 2,C2700265,Waardenburg Syndrome Type 2,,
896,Waardenburg syndrome type 3,C0079661,Klein\'s Syndrome,,
896,Waardenburg syndrome type 3,C0599973,Waardenburg Anophthalmia Syndrome,,
897,Waardenburg-Shah syndrome,C1848519,"WAARDENBURG SYNDROME, TYPE 4A",,
897,Waardenburg-Shah syndrome,C3266898,Waardenburg Syndrome,,
898,Wagner disease,C1840452,Hyaloideoretinal degeneration of Wagner,,
89838,"Epidermolysis bullosa simplex, autosomal recessive K14",C3715082,"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",,
89839,Epidermolysis bullosa simplex superficialis,C1843477,Epidermolysis Bullosa Simplex Superficialis,,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C0079297,Epidermolysis Bullosa Progressiva,,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C0079301,Junctional Epidermolysis Bullosa,,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C0268374,Adult junctional epidermolysis bullosa (disorder),,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C2608084,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C2673609,Epidermolysis bullosa inversa dystrophica,,
89840,"Junctional epidermolysis bullosa, non-Herlitz type",C2673610,JEB-I,,
89841,Centripetalis recessive dystrophic epidermolysis bullosa,C4511056,Centripetalis recessive dystrophic epidermolysis bullosa,,
89843,Dystrophic epidermolysis bullosa pruriginosa,C1275114,Epidermolysis Bullosa Pruriginosa,,
89844,"Lissencephaly syndrome, Norman-Roberts type",C0796089,"LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",,
899,Walker-Warburg syndrome,C0265221,Walker-Warburg congenital muscular dystrophy,,
89936,X-linked hypophosphatemia,C0733682,"Hypophosphatemic Rickets, X-Linked Dominant",,
89936,X-linked hypophosphatemia,C3536984,"Vitamin D-Resistant Rickets, X-Linked",,
89936,X-linked hypophosphatemia,C3540852,"Rickets, X-Linked Hypophosphatemic",,
89937,Autosomal dominant hypophosphatemic rickets,C0342642,Autosomal dominant hypophosphatemic rickets,,
89937,Autosomal dominant hypophosphatemic rickets,C1704375,Hypophosphatemic Rickets,,
90,Argininemia,C0268548,Hyperargininemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
900,Granulomatosis with polyangiitis,C3495801,Granulomatosis with polyangiitis,M00-M99,Diseases of the musculoskeletal system and connective tissue
90001,X-linked cone dysfunction syndrome with myopia,C3159311,BORNHOLM EYE DISEASE,,
90003,Inflammatory pseudotumor of the liver,C1333967,Inflammatory pseudotumor of liver,,
90023,Primary immunodeficiency syndrome due to LAMTOR2 deficiency,C1835829,Immunodeficiency due to Defect in MAPBP-Interacting Protein,,
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",C1853144,"Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",,
90026,Primary erythromelalgia,C0014805,Primary Erythermalgia,,
90026,Primary erythromelalgia,C3276706,Small Fiber Neuropathy,,
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,C3150343,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",,
90033,"Autoimmune hemolytic anemia, warm type",C0272118,Warm autoimmune hemolytic anemia,,
90035,Paroxysmal cold hemoglobinuria,C0086774,Cold paroxysmal hemoglobinuria,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90039,Hemoglobin D disease,C0272080,Hemoglobin D disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90041,Gaisböck syndrome,C0541719,Stress polycythemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90042,Primary familial polycythemia,C0152264,Familial erythrocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90044,Familial pseudohyperkalemia,C1836705,"Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",,
90044,Familial pseudohyperkalemia,C1861453,Pseudohyperkalemia Cardiff,,
90045,Hereditary folate malabsorption,C0342705,"Folate Malabsorption, Hereditary",,
90050,Retinopathy of prematurity,C0035344,Retinopathy of Prematurity,H00-H59,Diseases of the eye and adnexa
90062,Acute liver failure,C0162557,"Liver Failure, Acute",,
90081,AIDS wasting syndrome,C0343755,HIV Wasting Syndrome,,
901,Wells syndrome,C0343101,Wells syndrome,L00-L99,Diseases of the skin and subcutaneous tissue
90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,C1861669,Charcot-Marie-Tooth disease and deafness,,
90117,"Hereditary motor and sensory neuropathy, Okinawa type",C1858338,"Neuropathy, hereditary motor and sensory, Okinawa type",,
90186,Meige disease,C0025183,Meige Syndrome,,
90186,Meige disease,C0238261,Lymphedema praecox,I00-I99,Diseases of the circulatory system
902,Werner syndrome,C0043119,Werner Syndrome,,
90280,Chilblain lupus,C0024145,Chilblain lupus 1,,
90281,Discoid lupus erythematosus,C0024138,"Lupus Erythematosus, Discoid",L00-L99,Diseases of the skin and subcutaneous tissue
90289,Localized scleroderma,C0036420,Localized scleroderma,L00-L99,Diseases of the skin and subcutaneous tissue
90291,Systemic sclerosis,C0036421,Systemic Scleroderma,M00-M99,Diseases of the musculoskeletal system and connective tissue
903,Von Willebrand disease,C0042974,von Willebrand Disease,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90308,Klippel-Trénaunay syndrome,C0022739,Klippel-Trenaunay-Weber Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
90340,Blau syndrome,C1861303,"SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",M00-M99,Diseases of the musculoskeletal system and connective tissue
90342,Xeroderma pigmentosum variant,C0432328,"Xeroderma pigmentosum, variant form",,
90342,Xeroderma pigmentosum variant,C1848410,"Xeroderma pigmentosum, variant type",,
90348,Autosomal dominant cutis laxa,C0268350,"Cutis Laxa, Autosomal Dominant",,
90349,Autosomal recessive cutis laxa type 1,C0268351,"Cutis Laxa, Autosomal Recessive, Type I",,
90349,Autosomal recessive cutis laxa type 1,C0432336,"Cutis laxa, recessive, type I",,
90354,Brittle cornea syndrome,C0268344,Ehlers-Danlos syndrome 6B,,
90362,Primary intestinal lymphangiectasia,C0024215,"Lymphangiectasis, Intestinal",,
90368,Hypotrichosis simplex of the scalp,C1840299,Hypotrichosis Simplex of Scalp,,
904,Williams syndrome,C0175702,Williams Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
905,Wilson disease,C0019202,Hepatolenticular Degeneration,E00-E90,"Endocrine, nutritional and metabolic diseases"
906,Wiskott-Aldrich syndrome,C0043194,Wiskott-Aldrich Syndrome,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
90641,Mitochondrial non-syndromic sensorineural deafness,C1857332,"Deafness, Sensorineural, Autosomal-Mitochondrial Type",,
90641,Mitochondrial non-syndromic sensorineural deafness,C3151897,"DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL",,
90646,Deafness-hypogonadism syndrome,C1844680,DEAFNESS-HYPOGONADISM SYNDROME,,
90647,Jervell and Lange-Nielsen syndrome,C0022387,Jervell-Lange Nielsen Syndrome,,
90652,Otopalatodigital syndrome type 2,C1844696,"OTOPALATODIGITAL SYNDROME, TYPE II",,
90658,Charcot-Marie-Tooth disease type 1E,C1861669,Charcot-Marie-Tooth disease and deafness,,
90658,Charcot-Marie-Tooth disease type 1E,C2931686,"Charcot-Marie-Tooth disease, Type 1E",,
90658,Charcot-Marie-Tooth disease type 1E,C3495591,"Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",,
90673,Hypothyroidism due to TSH receptor mutations,C3493776,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",,
90674,Isolated thyroid-stimulating hormone deficiency,C0271789,"Hypothyroidism, Congenital, Nongoitrous, 4",,
90674,Isolated thyroid-stimulating hormone deficiency,C3665349,Secondary hypothyroidism,,
90674,Isolated thyroid-stimulating hormone deficiency,C4082174,"Thyrotropin deficiency, isolated",,
90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,C0342474,Lipoid congenital adrenal hyperplasia,,
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,C0342471,3 beta-Hydroxysteroid dehydrogenase deficiency,,
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,C0268285,"Adrenal hyperplasia, congenital, type 5",,
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,C3277849,"17,20-Lyase Deficiency, Isolated",,
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,C1859995,"Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",,
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,C2936858,Congenital adrenal hyperplasia due to 21 hydroxylase deficiency,,
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,C0268292,Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency,,
90796,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",C0268285,"Adrenal hyperplasia, congenital, type 5",,
90797,Partial androgen insensitivity syndrome,C0268301,Reifenstein Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
90797,Partial androgen insensitivity syndrome,C0860159,Partial androgen resistance,,
90797,Partial androgen insensitivity syndrome,C2931847,Type I familial incomplete male pseudohermaphroditism,,
908,Fragile X syndrome,C0016667,Fragile X Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
908,Fragile X syndrome,C0432482,Fragile X chromosome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
908,Fragile X syndrome,C0751156,FRAXA Syndrome,,
909,Cerebrotendinous xanthomatosis,C0238052,"Xanthomatosis, Cerebrotendinous",,
91,Aromatase deficiency,C0853662,Oestrogen deficiency,,
91,Aromatase deficiency,C1960539,Aromatase deficiency,,
910,Xeroderma pigmentosum,C0043346,Xeroderma Pigmentosum,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
911,Combined immunodeficiency due to ZAP70 deficiency,C2931299,ZAP70 deficiency,,
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,C1835845,Mitochondrial Phosphate Carrier Deficiency,,
91131,DK1-CDG,C1835849,"Congenital Disorder Of Glycosylation, Type Im",,
91132,Ichthyosis-hypotrichosis syndrome,C1835851,"Ichthyosis with hypotrichosis, autosomal recessive",,
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,C1835813,Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency,,
91138,Cryoglobulinemic vasculitis,C0343208,Essential mixed cryoglobulinemia,,
91138,Cryoglobulinemic vasculitis,C0543697,Mixed cryoglobulinemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
912,Zellweger syndrome,C0043459,Zellweger Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
912,Zellweger syndrome,C1865803,"Peroxisome Biogenesis Disorder, Complementation Group 1",,
913,Zollinger-Ellison syndrome,C0017150,Gastrinoma,,
913,Zollinger-Ellison syndrome,C0043515,Zollinger-Ellison syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
91347,TSH-secreting pituitary adenoma,C0346303,Thyrotroph adenoma,,
91349,Non-functioning pituitary adenoma,C0338078,Non-Functioning Pituitary Gland Neoplasm,,
91355,Sheehan syndrome,C0242342,Sheehan Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
91359,Chronic pneumonitis of infancy,C3872848,Chronic pneumonitis of infancy,,
91378,Hereditary angioedema,C0019243,"Angioedemas, Hereditary",,
91385,Acquired angioedema,C0002994,Angioedema,S00-T98,"Injury, poisoning and certain other consequences of external causes"
91385,Acquired angioedema,C2931758,Acquired angioedema,,
91396,Isolated cryptophthalmia,C0311249,Cryptophthalmos,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
91397,Isolated ankyloblepharon filiforme adnatum,C1302999,Ankyloblepharon filiforme adnatum,,
91411,Congenital ptosis,C0266573,Congenital ptosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
91411,Congenital ptosis,C1867438,"PTOSIS, HEREDITARY CONGENITAL 1 (disorder)",,
91412,Marcus-Gunn syndrome,C0266521,Marcus Gunn phenomenon,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
91414,Pilomatrixoma,C0206711,Pilomatrixoma,,
91481,Ring dermoid of cornea,C1867155,RING DERMOID OF CORNEA,,
91495,Persistent hyperplastic primary vitreous,C0266568,Persistent Hyperplastic Primary Vitreous,,
91495,Persistent hyperplastic primary vitreous,C1857299,"RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL",,
91496,Snowflake vitreoretinal degeneration,C1860405,Snowflake vitreoretinal degeneration,,
915,Aarskog-Scott syndrome,C0175701,Aarskog syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
915,Aarskog-Scott syndrome,C3275558,"MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",,
91500,Tubulointerstitial nephritis and uveitis syndrome,C1843273,Tubulointerstitial nephritis and uveitis,,
91546,Lyme disease,C0024198,Lyme Disease,A00-B99,Certain infectious and parasitic diseases
91547,Relapsing fever,C0035021,Relapsing Fever,A00-B99,Certain infectious and parasitic diseases
916,Aase-Smith syndrome,C0265265,Aase syndrome,,
92,Juvenile idiopathic arthritis,C3495559,Juvenile arthritis,M00-M99,Diseases of the musculoskeletal system and connective tissue
920,Ablepharon macrostomia syndrome,C1860224,ABLEPHARON-MACROSTOMIA SYNDROME,,
92050,Congenital tufting enteropathy,C2750737,"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",,
921,Abruzzo-Erickson syndrome,C1844862,Abruzzo Erickson syndrome,,
926,Acatalasemia,C0268419,Acatalasia,,
926,Acatalasemia,C2931868,Catalase deficiency,,
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,C0268543,"Hyperammonemia, type III",,
93,Aspartylglucosaminuria,C0268225,Aspartylglucosaminuria,E00-E90,"Endocrine, nutritional and metabolic diseases"
93,Aspartylglucosaminuria,C2931840,Aspartylglucosamidase (AGA) deficiency,,
930,Idiopathic achalasia,C0014848,Esophageal Achalasia,K00-K93,Diseases of the digestive system
930,Idiopathic achalasia,C0859976,Idiopathic achalasia of esophagus,,
931,Acheiropodia,C0265559,Acheiropodia,,
93100,"Renal agenesis, unilateral",C0266294,Unilateral agenesis of kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93101,Renal hypoplasia,C0266295,Congenital hypoplasia of kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93101,Renal hypoplasia,C0431692,Bilateral renal hypoplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93101,Renal hypoplasia,C2608080,"RENAL HYPOPLASIA, ISOLATED (disorder)",,
93108,Renal dysplasia,C3536714,Renal dysplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93110,Posterior urethral valve,C0238506,Congenital posterior urethral valves,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,C0431693,Renal cysts and diabetes syndrome,,
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,C3280845,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",,
93160,Hypocalcemic vitamin D-resistant rickets,C0342646,"Vitamin D-Dependent Rickets, Type 2A",,
93160,Hypocalcemic vitamin D-resistant rickets,C3536983,Familial Hypophosphatemic Rickets,,
932,Achondrogenesis,C0001079,Achondrogenesis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93256,Fragile X-associated tremor/ataxia syndrome,C1839780,FRAGILE X TREMOR/ATAXIA SYNDROME,,
93262,Crouzon syndrome-acanthosis nigricans syndrome,C2677099,CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder),,
93269,"Short rib-polydactyly syndrome, Majewski type",C0024507,Majewski Syndrome,,
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",C0432197,"Short rib-polydactyly syndrome, Verma-Naumoff type",,
93274,Thanatophoric dysplasia type 2,C1300257,"Thanatophoric dysplasia, type 2",,
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,C0432214,Namaqualand hip dysplasia,,
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",C2748515,"Spondyloepimetaphyseal Dysplasia, Pakistani Type",,
93283,"Spondyloepiphyseal dysplasia, Kimberley type",C1842149,"Spondyloepiphyseal Dysplasia, Kimberley Type",,
93284,Spondyloepiphyseal dysplasia tarda,C0038015,Spondyloepiphyseal Dysplasia,,
93284,Spondyloepiphyseal dysplasia tarda,C3541456,"Spondyloepiphyseal Dysplasia Tarda, X-Linked",,
93296,Achondrogenesis type 2,C0220685,Achondrogenesis type 2,,
93296,Achondrogenesis type 2,C0542428,Hypochondrogenesis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93297,Hypochondrogenesis,C0542428,Hypochondrogenesis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93298,Achondrogenesis type 1B,C0265274,"Achondrogenesis, type IB (disorder)",,
93299,Achondrogenesis type 1A,C0265273,Achondrogenesis type 1A,,
93302,"Brachyolmia, Maroteaux type",C3159322,"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",,
93307,Multiple epiphyseal dysplasia type 4,C1847593,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",,
93308,Multiple epiphyseal dysplasia type 1,C1838280,"Epiphyseal dysplasia, multiple, 1",,
93311,Multiple epiphyseal dysplasia type 5,C1846843,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",,
93314,"Spondylometaphyseal dysplasia, Kozlowski type",C0265280,"Spondylometaphyseal dysplasia, Kozlowski type",,
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",C0432221,"Spondylometaphyseal dysplasia, \'corner fracture\' type",,
93316,"Spondylometaphyseal dysplasia, Schmidt type",C1866688,"Spondylometaphyseal dysplasia, Algerian type",,
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",C1855229,"Spondylometaphyseal dysplasia, Sedaghatian type",,
93321,Radial hemimelia,C0265581,Longitudinal deficiency of radius,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93322,Tibial hemimelia,C0265633,Congenital absence of tibia,,
93329,Autosomal recessive omodysplasia,C1850318,Omodysplasia type 1,,
93329,Autosomal recessive omodysplasia,C2936816,"Micromelic dysplasia, congenital, with dislocation of radius",,
93333,Pelviscapular dysplasia,C1850040,Pelviscapular dysplasia,,
93334,Postaxial polydactyly type A,C3887487,Postaxial polydactyly type A,,
93335,Postaxial polydactyly type B,C1868120,"POSTAXIAL POLYDACTYLY, TYPE B",,
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",C0700635,Strudwick syndrome,,
93347,Anauxetic dysplasia,C1846796,Anauxetic dysplasia,,
93347,Anauxetic dysplasia,C4479357,ANAUXETIC DYSPLASIA 2,,
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",C1865185,"Spondyloepimetaphyseal Dysplasia, Shohat Type",,
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",C1865832,"Spondyloepimetaphyseal Dysplasia, Missouri Type",,
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",C2748495,Metaphyseal Anadysplasia 1,,
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,C1849011,"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE",,
93359,Spondyloepimetaphyseal dysplasia with joint laxity,C0432243,Spondyloepimetaphyseal Dysplasia With Joint Laxity,,
93360,Spondyloepimetaphyseal dysplasia with multiple dislocations,C1863732,Spondyloepimetaphyseal dysplasia with multiple dislocations,,
93372,Familial hypocalciuric hypercalcemia type 1,C0342637,"Hypocalciuric hypercalcemia, familial, type 1",,
93372,Familial hypocalciuric hypercalcemia type 1,C1809471,Familial benign hypercalcemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
93372,Familial hypocalciuric hypercalcemia type 1,C1840348,"Hypocalciuric Hypercalcemia, Acquired",,
93383,Brachydactyly type B,C1300267,Brachydactyly syndrome type B,,
93383,Brachydactyly type B,C1862112,"BRACHYDACTYLY, TYPE B1",,
93384,Brachydactyly type C,C1300268,Brachydactyly syndrome type C,,
93384,Brachydactyly type C,C1862103,Brachydactyly type C,,
93387,Brachydactyly type E,C0265312,Brachydactyly syndrome type E,,
93387,Brachydactyly type E,C1862102,"BRACHYDACTYLY, TYPE E1",,
93388,Brachydactyly type A1,C1862151,"BRACHYDACTYLY, TYPE A1 (disorder)",,
93394,Brachydactyly type A4,C1862139,Brachymesophalangy 2 and 5,,
93396,Brachydactyly type A2,C1832702,"BRACHYDACTYLY, TYPE A2",,
93402,Syndactyly type 1,C1832590,"Craniosynostosis, Philadelphia Type",,
93402,Syndactyly type 1,C1861380,"Syndactyly, Type I",,
93403,Syndactyly type 2,C2699746,"Syndactyly, type 2",,
93404,Syndactyly type 3,C1861366,"SYNDACTYLY, TYPE III",,
93405,Syndactyly type 4,C1861355,"Syndactyly, Type IV",,
93406,Syndactyly type 5,C1861348,"Syndactyly, type v",,
93409,"Brachydactyly-syndactyly, Zhao type",C1853137,BRACHYDACTYLY-SYNDACTYLY SYNDROME,,
93409,"Brachydactyly-syndactyly, Zhao type",C4310807,BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME,,
93473,Hurler syndrome,C0086795,Pfaundler-Hurler Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
93474,Scheie syndrome,C0026708,Mucopolysaccharidosis V,E00-E90,"Endocrine, nutritional and metabolic diseases"
93476,Hurler-Scheie syndrome,C0086431,Hurler-Scheie Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
93571,Dense deposit disease,C0017662,"Glomerulonephritis, Membranoproliferative",,
93571,Dense deposit disease,C0268743,"Membranoproliferative Glomerulonephritis, Type II",,
93583,Congenital thrombotic thrombocytopenic purpura,C1268935,Congenital Thrombotic Thrombocytopenic Purpura,,
93583,Congenital thrombotic thrombocytopenic purpura,C1956258,Familial Thrombotic Thrombocytopenic Purpura,,
93585,Acquired thrombotic thrombocytopenic purpura,C2584778,"Thrombotic thrombocytopenic purpura, acquired",,
93591,Infantile nephronophthisis,C1865872,NEPHRONOPHTHISIS 2,,
93598,Primary hyperoxaluria type 1,C0268164,"Primary hyperoxaluria, type I",,
93599,Primary hyperoxaluria type 2,C0268165,Primary hyperoxaluria type 2,,
93600,Primary hyperoxaluria type 3,C3150878,Primary hyperoxaluria type III,,
93604,Antenatal Bartter syndrome,C1866495,"Bartter syndrome, antenatal type 1",,
93605,Classic Bartter syndrome,C1846343,"Bartter syndrome, type 3",,
93605,Classic Bartter syndrome,C1846344,"Bartter Syndrome, Type 3, with Hypocalciuria",,
93606,Nephrogenic syndrome of inappropriate antidiuresis,C1845202,Nephrogenic Syndrome of Inappropriate Antidiuresis,,
93607,Autosomal recessive proximal renal tubular acidosis,C1970309,"Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",,
93608,Autosomal dominant distal renal tubular acidosis,C1704380,Distal Renal Tubular Acidosis,,
93610,Distal renal tubular acidosis with anemia,C1969038,"RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",,
93610,Distal renal tubular acidosis with anemia,C1969039,"Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",,
93616,Hemoglobin H disease,C0002312,alpha-Thalassemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
93616,Hemoglobin H disease,C1260396,Alpha thalassemia intermedia,,
93616,Hemoglobin H disease,C3161174,Hemoglobin H Disease,,
93622,Dent disease type 1,C0403720,X-linked recessive nephrolithiasis with renal failure,,
93622,Dent disease type 1,C1848336,Dent disease 1,,
93623,Dent disease type 2,C1845167,Dent Disease 2,,
93672,Juvenile dermatomyositis,C0263666,"Dermatomyositis, Childhood Type",M00-M99,Diseases of the musculoskeletal system and connective tissue
93672,Juvenile dermatomyositis,C0406645,Amyopathic dermatomyositis,,
93685,Localized Castleman disease,C3898582,Localized Angiofollicular Lymphoid Hyperplasia,,
939,3-hydroxyisobutyric aciduria,C0342737,3-Hydroxyisobutyric aciduria,,
93921,Schwannomatosis,C0917817,Neurofibromatosis 3,,
93921,Schwannomatosis,C1335929,Schwannomatosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93921,Schwannomatosis,C2931480,"Neurofibromatosis, Type 3, mixed central and peripheral",,
93921,Schwannomatosis,C4048809,SCHWANNOMATOSIS 1,,
93924,Lobar holoprosencephaly,C0431362,Lobar Holoprosencephaly,,
93925,Alobar holoprosencephaly,C0431363,Alobar Holoprosencephaly,,
93928,Isolated epispadias,C0563449,"Epispadias, male (disorder)",,
93930,Bladder exstrophy,C0005689,Bladder Exstrophy,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
93952,"X-linked intellectual disability, Hedera type",C1845543,"Mental Retardation, X-Linked, with Epilepsy",,
93970,Holmes-Gang syndrome,C0796003,Juberg-Marsidi syndrome,,
93972,Juberg-Marsidi syndrome,C0796003,Juberg-Marsidi syndrome,,
93973,Carpenter-Waziri syndrome,C0796003,Juberg-Marsidi syndrome,,
93974,Smith-Fineman-Myers syndrome,C0796159,Mental retardation Smith Fineman Myers type,,
93976,Anotia,C0702139,Congenital absence of external ear,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
94,Astrocytoma,C0004114,Astrocytoma,,
94058,Neovascular glaucoma,C0017609,"Glaucoma, Neovascular",,
94063,12q14 microdeletion syndrome,C4305140,12q14 microdeletion syndrome,,
94064,Deafness-infertility syndrome,C1970187,"Deafness, Sensorineural, And Male Infertility",,
94065,15q24 microdeletion syndrome,C3697269,15q24 Microdeletion,,
94068,Spondyloepiphyseal dysplasia congenita,C2745959,"Spondyloepiphyseal dysplasia, congenita",Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
94083,Partington syndrome,C0796250,PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME,,
94088,Hereditary renal hypouricemia,C0473219,Renal hypouricemia,,
94089,Pseudohypoparathyroidism type 1B,C1864100,"PSEUDOHYPOPARATHYROIDISM, TYPE IB",,
94089,Pseudohypoparathyroidism type 1B,C2932715,Pseudohypoparathyroidism Type 1B,,
94093,Neuroleptic malignant syndrome,C0027849,Neuroleptic Malignant Syndrome,G00-G99,Diseases of the nervous system
94095,Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome,C1849069,Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies,,
941,D-glyceric aciduria,C0342765,D-Glyceric aciduria,,
941,D-glyceric aciduria,C1291386,D-glycericacidemia,E00-E90,"Endocrine, nutritional and metabolic diseases"
94122,"Cerebellar ataxia, Cayman type",C1832585,"CEREBELLAR ATAXIA, CAYMAN TYPE",,
94124,Spinocerebellar ataxia with axonal neuropathy type 1,C1846574,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",,
94147,Spinocerebellar ataxia type 7,C0752125,Spinocerebellar Ataxia Type 7,,
943,Malonic aciduria,C0342793,Malonic aciduria,,
945,Acalvaria,C0027794,Neural Tube Defects,,
945,Acalvaria,C0702169,Acrania,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
946,Acrocephalosyndactyly,C1510455,Acrocephalosyndactylia,,
95,Friedreich ataxia,C0016719,Friedreich Ataxia,,
95,Friedreich ataxia,C1856689,FRIEDREICH ATAXIA 1,,
950,Acrodysostosis,C0220659,Acrodysostosis,,
95157,Acute hepatic porphyria,C0268328,Porphobilinogen synthase deficiency,,
95159,Hepatoerythropoietic porphyria,C0162569,Hepatoerythropoietic Porphyria,,
952,"Acrofacial dysostosis, Weyers type",C0457013,Weyers acrofacial dysostosis,,
95409,Acute adrenal insufficiency,C0151467,Addisonian crisis,E00-E90,"Endocrine, nutritional and metabolic diseases"
95428,COG8-CDG,C1970021,"Congenital Disorder Of Glycosylation, Type IIH",,
95432,Primary progressive aphasia,C0282513,Primary Progressive Aphasia (disorder),G00-G99,Diseases of the nervous system
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,C1849094,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",,
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,C0014518,Toxic Epidermal Necrolysis,L00-L99,Diseases of the skin and subcutaneous tissue
95494,"Combined pituitary hormone deficiencies, genetic forms",C2751608,"Pituitary Hormone Deficiency, Combined, 1",,
95496,Pituitary stalk interruption syndrome,C4053775,Pituitary stalk interruption syndrome,,
955,Acroosteolysis dominant type,C0917715,Hajdu-Cheney Syndrome,,
955,Acroosteolysis dominant type,C1838257,Serpentine fibula polycystic kidney syndrome,,
955,Acroosteolysis dominant type,C2930971,Acroosteolysis dominant type,,
95506,Primary hypophysitis,C0342410,Autoimmune Hypophysitis,,
95613,Pituitary apoplexy,C0032001,Pituitary Apoplexy,,
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,C1860042,Antley-Bixler Syndrome with Disordered Steroidogenesis,,
95702,Cytomegalic congenital adrenal hypoplasia,C0220766,Congenital hypoplasia of adrenal gland,,
95702,Cytomegalic congenital adrenal hypoplasia,C0342482,X-linked Adrenal Hypoplasia,,
95707,Idiopathic isolated micropenis,C0266435,Congenital hypoplasia of penis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
95707,Idiopathic isolated micropenis,C1387005,Penis agenesis,,
95708,Rare precocious puberty,C0034013,Precocious Puberty,E00-E90,"Endocrine, nutritional and metabolic diseases"
95712,Thyroid ectopia,C0266283,Ectopic thyroid tissue (disorder),,
95713,Athyreosis,C0749420,Thyroid Agenesis,E00-E90,"Endocrine, nutritional and metabolic diseases"
95716,Familial thyroid dyshormonogenesis,C1848805,Thyroid Dyshormonogenesis 1,,
95719,Thyroid hemiagenesis,C4023190,Thyroid hemiagenesis,,
95720,Thyroid hypoplasia,C0151516,Thyroid Hypoplasia,,
959,Acro-renal-ocular syndrome,C1623209,Okihiro Syndrome,,
96,Ataxia with vitamin E deficiency,C0042875,Vitamin E Deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
96,Ataxia with vitamin E deficiency,C1848533,Ataxia with vitamin E deficiency,,
96061,Mosaic trisomy 8,C1096527,Mosaic trisomy 8 syndrome,,
96147,Kleefstra syndrome due to 9q34 microdeletion,C0795833,Kleefstra Syndrome,,
96169,Koolen-De Vries syndrome,C1864871,Chromosome 17q21.31 Deletion Syndrome,,
96170,Emanuel syndrome,C1836929,Emanuel syndrome,,
96186,Maternal uniparental disomy of chromosome 20,C4275029,Maternal uniparental disomy of chromosome 20,,
96253,Cushing disease,C0010481,Cushing Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
96253,Cushing disease,C0221406,Pituitary-dependent Cushing\'s disease,E00-E90,"Endocrine, nutritional and metabolic diseases"
963,Acromegaly,C0001206,Acromegaly,,
963,Acromegaly,C0405578,Gigantism and acromegaly,E00-E90,"Endocrine, nutritional and metabolic diseases"
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,C1842466,"Uniparental disomy, paternal, chromosome 14",,
965,Acromegaloid facial appearance syndrome,C0432066,Congenital malformation syndromes affecting facial appearance,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
965,Acromegaloid facial appearance syndrome,C0796280,Acromegaloid facial appearance syndrome,,
968,"Acromesomelic dysplasia, Hunter-Thompson type",C2930970,Acromesomelic dysplasia Hunter-Thompson type,,
969,Acromicric dysplasia,C0265287,Acromicric Dysplasia,,
97,Familial paroxysmal ataxia,C1720416,Episodic ataxia type 2 (disorder),,
970,Hereditary sensory and autonomic neuropathy type 2,C0020072,"Hereditary Sensory Autonomic Neuropathy, Type 2",,
970,Hereditary sensory and autonomic neuropathy type 2,C0270914,Hereditary Motor and Sensory-Neuropathy Type II,,
97214,Eisenmenger syndrome,C0013743,Eisenmenger Complex,I00-I99,Diseases of the circulatory system
97214,Eisenmenger syndrome,C0013743,Eisenmenger Complex,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
97229,Riboflavin transporter deficiency,C0015708,Fazio-Londe Syndrome,G00-G99,Diseases of the nervous system
97229,Riboflavin transporter deficiency,C0796274,Brown-Vialetto-Van Laere syndrome,,
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,C0268149,Glycogen storage disease type X,,
97239,Reducing body myopathy,C0270970,Reducing-body myopathy,,
97240,Zebra body myopathy,C0270969,Zebra body myopathy,,
97242,Congenital muscular dystrophy,C0026850,Muscular Dystrophy,G00-G99,Diseases of the nervous system
97242,Congenital muscular dystrophy,C0699743,Congenital muscular dystrophy (disorder),G00-G99,Diseases of the nervous system
97245,Congenital myopathy,C0027127,Myotonia Congenita,,
97245,Congenital myopathy,C0270960,Congenital myopathy (disorder),G00-G99,Diseases of the nervous system
97249,Pontocerebellar hypoplasia type 3,C1842687,PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder),,
97253,Neuroendocrine tumor of pancreas,C0242363,Islet Cell Tumor,C00-D48,Neoplasms
97279,Insulinoma,C0021670,insulinoma,,
97280,Glucagonoma,C0017689,Glucagonoma,,
97282,VIPoma,C0011993,Vipoma,,
97282,VIPoma,C0086768,Pancreatic Cholera,,
97283,Somatostatinoma,C0037661,Somatostatinoma,,
97285,Thyroid lymphoma,C1336753,Thyroid Lymphoma,,
97286,Carney-Stratakis syndrome,C1847319,PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA,,
97292,Cardiogenic shock,C0036980,"Shock, Cardiogenic",R00-R99,"Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"
97297,Bohring-Opitz syndrome,C0796232,Bohring syndrome,,
97330,Thoracic outlet syndrome,C0039984,Thoracic Outlet Syndrome,G00-G99,Diseases of the nervous system
97360,Robinow syndrome,C0265205,Robinow Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
97362,"Renal hypoplasia, bilateral",C0431692,Bilateral renal hypoplasia,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
97363,Unilateral multicystic dysplastic kidney,C1567426,Unilateral Multicystic Dysplastic Kidney,,
97363,Unilateral multicystic dysplastic kidney,C3714581,Multicystic Dysplastic Kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
97364,Bilateral multicystic dysplastic kidney,C1567427,Bilateral Multicystic Dysplastic Kidneys,,
97364,Bilateral multicystic dysplastic kidney,C1840451,"MULTICYSTIC RENAL DYSPLASIA, BILATERAL",,
97364,Bilateral multicystic dysplastic kidney,C3714581,Multicystic Dysplastic Kidney,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
974,Adams-Oliver syndrome,C0265268,Adams Oliver syndrome,,
97548,Right sided atrial isomerism,C0175707,Asplenia Syndrome,,
97548,Right sided atrial isomerism,C0265357,Polysplenia Syndrome,,
97548,Right sided atrial isomerism,C1876171,Polyasplenia,,
97548,Right sided atrial isomerism,C1876172,"VAH, AUTOSOMAL RECESSIVE",,
97548,Right sided atrial isomerism,C1876173,"Heterotaxy, Visceroatrial, Autosomal Recessive",,
97548,Right sided atrial isomerism,C3178806,Right Atrial Isomerism,,
97593,Pseudohypoparathyroidism,C0033806,Pseudohypoparathyroidism,E00-E90,"Endocrine, nutritional and metabolic diseases"
976,Adenine phosphoribosyltransferase deficiency,C0268120,Adenine phosphoribosyltransferase deficiency,,
976,Adenine phosphoribosyltransferase deficiency,C3665382,"2,8-Dihydroxyadenine Urolithiasis",,
97685,17q11 microdeletion syndrome,C3150928,NF1 Microdeletion Syndrome,,
978,ADULT syndrome,C1863204,ADULT SYNDROME,,
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,C1849140,"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE",,
980,Absence of the pulmonary artery,C0265905,Agenesis of pulmonary artery,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
98085,"46,XY disorder of sex development",C2751824,"46, XY Disorders of Sex Development",,
98249,Ehlers-Danlos syndrome,C0013720,Ehlers-Danlos Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
98274,Myeloproliferative neoplasm,C0027022,Myeloproliferative disease,C00-D48,Neoplasms
98274,Myeloproliferative neoplasm,C1292778,Chronic myeloproliferative disorder,C00-D48,Neoplasms
98275,Myelodysplastic/myeloproliferative disease,C1301355,Myelodysplastic-Myeloproliferative Diseases,,
98277,Acute myeloid leukemia with recurrent genetic anomaly,C0023467,"Leukemia, Myelocytic, Acute",C00-D48,Neoplasms
98277,Acute myeloid leukemia with recurrent genetic anomaly,C3275959,"LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO",,
98292,Mastocytosis,C0023461,"Leukemia, Mast-Cell",C00-D48,Neoplasms
98292,Mastocytosis,C0024899,Mastocytosis,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
98292,Mastocytosis,C0024899,Mastocytosis,C00-D48,Neoplasms
98292,Mastocytosis,C0024899,Mastocytosis,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
98292,Mastocytosis,C0024901,"Mastocytosis, Diffuse Cutaneous",C00-D48,Neoplasms
98292,Mastocytosis,C0042111,Urticaria Pigmentosa,C00-D48,Neoplasms
98292,Mastocytosis,C0221013,"Mastocytosis, Systemic",C00-D48,Neoplasms
98292,Mastocytosis,C0334664,Mast Cell Neoplasm,C00-D48,Neoplasms
98292,Mastocytosis,C1136033,Cutaneous Mastocytosis,C00-D48,Neoplasms
98293,Hodgkin lymphoma,C0019829,Hodgkin Disease,C00-D48,Neoplasms
983,Testicular regression syndrome,C0266427,Testicular regression syndrome,,
983,Testicular regression syndrome,C1261504,Congenital absence of both testes,,
98306,Familial partial lipodystrophy,C0271694,Familial partial lipodystrophy,,
98375,Autoimmune hemolytic anemia,C0002880,Autoimmune hemolytic anemia,,
98428,Secondary polycythemia,C1318533,Secondary polycythemia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,C1848534,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",,
98482,Idiopathic inflammatory myopathy,C0751356,Idiopathic Inflammatory Myopathies,,
98626,Stromal corneal dystrophy,C0038457,"Stromal Dystrophies, Corneal",,
98672,Autosomal dominant optic atrophy,C0338508,"Optic Atrophy, Autosomal Dominant",,
98673,"Autosomal dominant optic atrophy, classic form",C0338508,"Optic Atrophy, Autosomal Dominant",,
98715,Uveitis,C0042164,Uveitis,H00-H59,Diseases of the eye and adnexa
98723,Hypoplastic right heart syndrome,C0265856,Hypoplasia of right heart,,
98723,Hypoplastic right heart syndrome,C0344963,Right hypoplastic heart syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
98755,Spinocerebellar ataxia type 1,C0752120,Spinocerebellar Ataxia Type 1,,
98756,Spinocerebellar ataxia type 2,C0752121,Spinocerebellar Ataxia Type 2,,
98756,Spinocerebellar ataxia type 2,C3149907,"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13",,
98757,Spinocerebellar ataxia type 3,C0024408,Machado-Joseph Disease,,
98758,Spinocerebellar ataxia type 6,C0752124,Spinocerebellar Ataxia Type 6 (disorder),,
98759,Spinocerebellar ataxia type 17,C1846707,SPINOCEREBELLAR ATAXIA 17,,
98760,Spinocerebellar ataxia type 8,C1837454,SPINOCEREBELLAR ATAXIA 8,,
98761,Spinocerebellar ataxia type 10,C1963674,Spinocerebellar Ataxia 10,,
98762,Spinocerebellar ataxia type 12,C1858501,Spinocerebellar Ataxia 12,,
98763,Spinocerebellar ataxia type 14,C1854369,Spinocerebellar ataxia 14,,
98764,Spinocerebellar ataxia type 27,C1836383,SPINOCEREBELLAR ATAXIA 27,,
98765,Spinocerebellar ataxia type 4,C0752122,Spinocerebellar Ataxia Type 4,,
98766,Spinocerebellar ataxia type 5,C0752123,Spinocerebellar Ataxia Type 5,,
98767,Spinocerebellar ataxia type 11,C1858351,SPINOCEREBELLAR ATAXIA 11,,
98768,Spinocerebellar ataxia type 13,C1854488,Spinocerebellar ataxia 13,,
98769,Spinocerebellar ataxia type 15/16,C1847725,SPINOCEREBELLAR ATAXIA 15,,
98771,Spinocerebellar ataxia type 18,C1843884,SPINOCEREBELLAR ATAXIA 18,,
98772,Spinocerebellar ataxia type 19/22,C1846367,Spinocerebellar ataxia 19,,
98773,Spinocerebellar ataxia type 21,C1843891,SPINOCEREBELLAR ATAXIA 21,,
98784,Autosomal dominant nocturnal frontal lobe epilepsy,C3696898,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,,
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,C0475813,Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder,,
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,C0795917,"Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",,
98805,"Primary dystonia, DYT4 type",C1851943,"DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",,
98805,"Primary dystonia, DYT4 type",C1860315,"Whispering dysphonia, hereditary",,
98806,"Primary dystonia, DYT6 type",C1414216,"Dystonia 6, torsion (disorder)",,
98807,"Primary dystonia, DYT13 type",C1843264,"DYSTONIA 13, TORSION",,
98808,Autosomal dominant dopa-responsive dystonia,C1851920,Dopa-Responsive Dystonia,,
98809,Paroxysmal kinesigenic dyskinesia,C1868682,Paroxysmal kinesigenic choreoathetosis,,
98810,Paroxysmal non-kinesigenic dyskinesia,C1851936,Paroxysmal choreoathetosis,,
98810,Paroxysmal non-kinesigenic dyskinesia,C1869117,Paroxysmal nonkinesigenic dyskinesia,,
98811,Paroxysmal exertion-induced dyskinesia,C1842534,DYSTONIA 18 (disorder),,
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,C1846006,"Ectodermal dysplasia, hypohidrotic, with immune deficiency",,
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,C1846008,"HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",,
98818,Landau-Kleffner syndrome,C0282512,Landau-Kleffner Syndrome,G00-G99,Diseases of the nervous system
98823,Chronic myelomonocytic leukemia,C0023466,"Leukemia, Monocytic, Chronic",C00-D48,Neoplasms
98823,Chronic myelomonocytic leukemia,C0023480,"Leukemia, Myelomonocytic, Chronic",C00-D48,Neoplasms
98824,Atypical chronic myeloid leukemia,C1292772,"Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative",C00-D48,Neoplasms
98826,Refractory anemia,C0002893,Refractory anemias,,
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),C0023479,Acute myelomonocytic leukemia,C00-D48,Neoplasms
98831,Acute myeloid leukemia with 11q23 abnormalities,C1292775,"Acute myeloid leukemia, 11q23 abnormalities",C00-D48,Neoplasms
98832,Acute myeloid leukemia with minimal differentiation,C0522631,"Acute myeloid leukemia, minimal differentiation",C00-D48,Neoplasms
98833,Acute myeloblastic leukemia without maturation,C0026998,"Acute Myeloid Leukemia, M1",C00-D48,Neoplasms
98834,Acute myeloblastic leukemia with maturation,C1879321,Acute Myeloid Leukemia (AML-M2),C00-D48,Neoplasms
98838,Primary mediastinal large B-cell lymphoma,C1292754,Mediastinal (Thymic) Large B-Cell Lymphoma,C00-D48,Neoplasms
98841,Anaplastic large cell lymphoma,C0206180,Ki-1+ Anaplastic Large Cell Lymphoma,C00-D48,Neoplasms
98842,Lymphomatoid papulosis,C0206182,Lymphomatoid Papulosis,C00-D48,Neoplasms
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",C0152268,Nodular Sclerosis Classical Hodgkin Lymphoma,C00-D48,Neoplasms
98844,"Classic Hodgkin lymphoma, mixed cellularity type",C0152266,Mixed Cellularity Hodgkin Lymphoma,C00-D48,Neoplasms
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",C0019829,Hodgkin Disease,C00-D48,Neoplasms
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",C1266194,Lymphocyte Rich Classical Hodgkin Lymphoma,C00-D48,Neoplasms
98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",C0152267,"Hodgkin lymphoma, lymphocyte depletion",C00-D48,Neoplasms
98848,Indolent systemic mastocytosis,C0272203,Indolent Systemic Mastocytosis,C00-D48,Neoplasms
98849,Systemic mastocytosis with associated hematologic neoplasm,C1301365,"Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease",,
98850,Aggressive systemic mastocytosis,C1112486,Aggressive Systemic Mastocytosis,C00-D48,Neoplasms
98851,Mast cell leukemia,C0023461,"Leukemia, Mast-Cell",C00-D48,Neoplasms
98856,Charcot-Marie-Tooth disease type 2B1,C1854154,"Charcot-Marie-Tooth disease, Type 2B1",,
98863,X-linked Emery-Dreifuss muscular dystrophy,C0751337,X-Linked Emery-Dreifuss Muscular Dystrophy,G00-G99,Diseases of the nervous system
98868,Southeast Asian ovalocytosis,C1862322,"Ovalocytosis, Malaysian-Melanesian-Filipino Type",,
98868,Southeast Asian ovalocytosis,C1862324,Elliptocytosis 4,,
98869,Congenital dyserythropoietic anemia type I,C0271933,"Congenital dyserythropoietic anemia, type I",,
98870,Congenital dyserythropoietic anemia type III,C0271934,"Congenital dyserythropoietic anemia, type III",,
98873,Congenital dyserythropoietic anemia type II,C1306589,"Congenital dyserythropoietic anemia, type II",,
98878,Hemophilia A,C0019069,Hemophilia A,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
98878,Hemophilia A,C3494187,Factor VIII Deficiency,,
98879,Hemophilia B,C0008533,Hemophilia B,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
98881,Familial dysfibrinogenemia,C0272350,"Dysfibrinogenemia, Congenital",D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
98881,Familial dysfibrinogenemia,C1859970,"Hypodysfibrinogenemia, Congenital",,
98890,Early-onset X-linked optic atrophy,C1839576,OPTIC ATROPHY 2 (disorder),,
98892,Periventricular nodular heterotopia,C1868720,Periventricular Nodular Heterotopia,,
98895,Becker muscular dystrophy,C0917713,Becker Muscular Dystrophy,,
98896,Duchenne muscular dystrophy,C0013264,"Muscular Dystrophy, Duchenne",,
98902,Amish nemaline myopathy,C1854380,NEMALINE MYOPATHY 5,,
98907,Neutral lipid storage disease with ichthyosis,C0268238,Triglyceride storage disease with ichthyosis,,
98908,Neutral lipid storage myopathy,C1853136,Neutral Lipid Storage Disease with Myopathy,,
98909,Desminopathy,C1832370,"MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",,
98912,"Late-onset distal myopathy, Markesbery-Griggs type",C1836155,"Myopathy, Myofibrillar, Zasp-Related",,
98919,Miller Fisher syndrome,C0393799,Miller Fisher Syndrome,G00-G99,Diseases of the nervous system
98920,Spinal muscular atrophy with respiratory distress type 1,C1858517,SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1,,
98933,"Multiple system atrophy, parkinsonian type",C0270733,Striatonigral Degeneration,G00-G99,Diseases of the nervous system
98934,Huntington disease-like 2,C1847987,HUNTINGTON DISEASE-LIKE 2,,
98938,Colobomatous microphthalmia,C2931501,Microphthalmia associated with colobomatous cyst,,
98948,Congenital symblepharon,C0152454,Symblepharon,H00-H59,Diseases of the eye and adnexa
98954,Meesmann corneal dystrophy,C0339277,"Corneal Dystrophy, Juvenile Epithelial of Meesmann",H00-H59,Diseases of the eye and adnexa
98957,Gelatinous drop-like corneal dystrophy,C0339273,"Corneal dystrophy, Lattice type 3",,
98959,Subepithelial mucinous corneal dystrophy,C2748503,"Corneal Dystrophy, Subepithelial Mucinous",,
98960,Thiel-Behnke corneal dystrophy,C1562894,Thiel-Behnke corneal dystrophy,,
98961,Reis-Bücklers corneal dystrophy,C0339278,Reis-Bucklers\' corneal dystrophy,,
98962,Granular corneal dystrophy type I,C1641846,Groenouw corneal dystrophy type I (disorder),,
98963,Granular corneal dystrophy type II,C1275685,Avellino corneal dystrophy,,
98964,Lattice corneal dystrophy type I,C1690006,Lattice corneal dystrophy Type I,,
98967,Schnyder corneal dystrophy,C0271287,Schnyder crystalline corneal dystrophy,,
98969,Macular corneal dystrophy,C0024439,Macular corneal dystrophy,H00-H59,Diseases of the eye and adnexa
98969,Macular corneal dystrophy,C1636149,"Macular dystrophy, corneal type 1",,
98969,Macular corneal dystrophy,C1691013,Macular corneal dystrophy Type II (disorder),,
98970,Fleck corneal dystrophy,C1562113,Fleck corneal dystrophy,,
98971,Posterior amorphous corneal dystrophy,C2748502,"CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",,
98973,Posterior polymorphous corneal dystrophy,C0339284,Polymorphous corneal dystrophy,,
98974,Fuchs endothelial corneal dystrophy,C0016781,Fuchs Endothelial Dystrophy,H00-H59,Diseases of the eye and adnexa
98975,Congenital hereditary endothelial dystrophy type I,C1562689,Congenital hereditary endothelial dystrophy,,
98976,Congenital glaucoma,C0020302,Hydrophthalmos,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
98976,Congenital glaucoma,C1856439,"GLAUCOMA 3, PRIMARY CONGENITAL, A",,
98976,Congenital glaucoma,C3278153,"GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",,
98977,Juvenile glaucoma,C2981140,Glaucoma of childhood,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
99,Autosomal dominant cerebellar ataxia,C4087347,Autosomal dominant cerebellar ataxia,,
990,Agnathia-holoprosencephaly-situs inversus syndrome,C0265242,Otocephaly,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
990,Agnathia-holoprosencephaly-situs inversus syndrome,C1876185,Dysgnathia complex,,
99000,Adult-onset foveomacular vitelliform dystrophy,C1842914,Adult-Onset Vitelliform Macular Dystrophy,,
99013,Spastic paraplegia type 7,C1846564,"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",,
99013,Spastic paraplegia type 7,C3711370,Spastic Paraplegia Type 7,,
99014,X-linked Charcot-Marie-Tooth disease type 5,C1839566,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",,
99015,Spastic paraplegia type 2,C1839264,"SPASTIC PARAPLEGIA 2, X-LINKED (disorder)",,
99027,Adult-onset autosomal dominant leukodystrophy,C1868512,"Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",,
99027,Adult-onset autosomal dominant leukodystrophy,C3164344,Adult onset autosomal dominant leukodystrophy,,
99125,Congenital total pulmonary venous return anomaly,C0036400,Scimitar Syndrome,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
99141,Lymphedema-posterior choanal atresia syndrome,C3150875,CHOANAL ATRESIA AND LYMPHEDEMA,,
99147,Acquired von Willebrand syndrome,C0272362,Acquired von Willebrand\'s disease,,
994,Fetal akinesia deformation sequence,C1276035,Pena-Shokeir syndrome type I,,
99429,Complete androgen insensitivity syndrome,C0039585,Androgen-Insensitivity Syndrome,E00-E90,"Endocrine, nutritional and metabolic diseases"
99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,C3553958,METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA,,
99657,"Primary dystonia, DYT2 type",C1857093,"DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)",,
99718,Leber plus disease,C4304725,Leber plus disease,,
99725,Pituitary gigantism,C0017547,Gigantism,,
99725,Pituitary gigantism,C0405578,Gigantism and acromegaly,E00-E90,"Endocrine, nutritional and metabolic diseases"
99731,Isolated sulfite oxidase deficiency,C0268624,Sulfite oxidase deficiency,E00-E90,"Endocrine, nutritional and metabolic diseases"
99731,Isolated sulfite oxidase deficiency,C2931746,Sulfocysteinuria,,
99734,Myotonia fluctuans,C0752355,Myotonia Fluctuans (disorder),G00-G99,Diseases of the nervous system
99735,Myotonia permanens,C2931826,Potassium aggravated myotonia,G00-G99,Diseases of the nervous system
99741,King-Denborough syndrome,C1840365,King Denborough syndrome,,
99742,Amish lethal microcephaly,C1846648,"MICROCEPHALY, AMISH TYPE (disorder)",,
99745,Typhoid,C0041466,Typhoid Fever,A00-B99,Certain infectious and parasitic diseases
99748,Pontiac fever,C0343528,Pontiac Fever,A00-B99,Certain infectious and parasitic diseases
99749,Kostmann syndrome,C1853118,Severe congenital neutropenia,D50-D89,Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
99750,Atypical progressive supranuclear palsy syndrome,C1850077,"Supranuclear Palsy, Progressive, 1, Atypical",,
99756,Alveolar rhabdomyosarcoma,C0206655,Alveolar rhabdomyosarcoma,,
99757,Embryonal rhabdomyosarcoma,C0206656,Embryonal Rhabdomyosarcoma,,
99757,Embryonal rhabdomyosarcoma,C1849385,Rhabdomyosarcoma 1,,
99771,Bifid uvula,C0266122,Cleft uvula,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
99772,Cleft velum,C0432098,Cleft Soft Palate,Q00-Q99,"Congenital malformations, deformations and chromosomal abnormalities"
99789,Dentin dysplasia type I,C0399379,"Dentin dysplasia, type 1",,
99791,Dentin dysplasia type II,C0399380,"Dentin dyspalsia, Shields type 2",,
99791,Dentin dysplasia type II,C1527284,Dental Pulp Stone,K00-K93,Diseases of the digestive system
99798,Oligodontia,C0020608,Hypodontia,K00-K93,Diseases of the digestive system
99798,Oligodontia,C4082304,Oligodontia,,
99802,Hemimegalencephaly,C0431391,Hemimegalencephaly,,
99803,Haddad syndrome,C1275808,Congenital central hypoventilation,,
99803,Haddad syndrome,C1859049,CCHS WITH HIRSCHSPRUNG DISEASE,,
99806,Oculootodental syndrome,C2750325,Oculootodental Syndrome,,
99807,PEHO-like syndrome,C1850056,PEHO-Like Syndrome,,
99810,Familial porencephaly,C1867983,"PORENCEPHALY, FAMILIAL",,
99812,LIG4 syndrome,C1847827,LIG4 Syndrome,,
99824,Lassa fever,C0023092,Lassa Fever,A00-B99,Certain infectious and parasitic diseases
99827,Crimean-Congo hemorrhagic fever,C0019099,"Hemorrhagic Fever, Crimean",A00-B99,Certain infectious and parasitic diseases
99828,Dengue fever,C0011311,Dengue Fever,A00-B99,Certain infectious and parasitic diseases
99828,Dengue fever,C0019100,Severe Dengue,A00-B99,Certain infectious and parasitic diseases
99828,Dengue fever,C0376300,Dengue Shock Syndrome,,
99829,Yellow fever,C0043395,Yellow Fever,A00-B99,Certain infectious and parasitic diseases
99832,Resistance to thyrotropin-releasing hormone syndrome,C4511136,Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency,,
99842,Leukocyte adhesion deficiency type I,C0398738,Leukocyte adhesion deficiency type 1,,
99843,Leukocyte adhesion deficiency type II,C0398739,"Congenital disorder of glycosylation, type 2C",,
99844,Leukocyte adhesion deficiency type III,C2748536,"Leukocyte Adhesion Deficiency, Type III",,
99845,Genetic recurrent myoglobinuria,C4274324,Genetic recurrent myoglobinuria,,
99849,Glycogen storage disease due to muscle beta-enolase deficiency,C2752027,Glycogen Storage Disease XIII,,
99853,Ovarioleukodystrophy,C1847967,OVARIOLEUKODYSTROPHY,,
99865,Spermatocytic seminoma,C0334517,Spermatocytic seminoma,,
99867,Thymoma,C0040100,Thymoma,,
99868,Thymic carcinoma,C0205969,Thymic Carcinoma,,
99880,Hyperparathyroidism-jaw tumor syndrome,C1704981,Hyperparathyroidism-Jaw Tumor Syndrome,,
99885,Permanent neonatal diabetes mellitus,C1833102,"DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",,
99885,Permanent neonatal diabetes mellitus,C1833104,"DIABETES MELLITUS, PERMANENT NEONATAL",,
99885,Permanent neonatal diabetes mellitus,C1853564,"Developmental Delay, Epilepsy, and Neonatal Diabetes",,
99886,Transient neonatal diabetes mellitus,C1832386,"Diabetes Mellitus, Transient Neonatal, 1",,
99892,ACTH-dependent Cushing syndrome,C0342442,ACTH-dependent Cushing\'s syndrome,,
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,C2930924,"Interferon gamma, receptor 1, deficiency",,
99901,Acyl-CoA dehydrogenase 9 deficiency,C1970173,"Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of",,
99915,Maligant granulosa cell tumor of the ovary,C0018206,granulosa cell tumor,,
99915,Maligant granulosa cell tumor of the ovary,C0334401,Malignant Granulosa Cell Tumor,,
99915,Maligant granulosa cell tumor of the ovary,C1567257,Granulosa Cell Cancer,,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,C0003810,Sertoli-Leydig cell tumor of ovary,,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,C0036769,Sertoli Cell Tumor,,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,C0206723,Sertoli-Leydig Cell Tumor,,
99919,Staphylococcal toxic-shock syndrome,C3714602,Staphylococcal toxic shock syndrome,,
99925,Invasive mole,C0008493,"Hydatidiform Mole, Invasive",C00-D48,Neoplasms
99926,Gestational choriocarcinoma,C0349557,Gestational choriocarcinoma,,
99927,Hydatidiform mole,C0020217,Hydatidiform Mole,O00-O099,"Pregnancy, childbirth and the puerperium"
99928,Placental site trophoblastic tumor,C0206666,"Trophoblastic Tumor, Placental Site",,
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,C1832274,"Charcot-Marie-Tooth disease, Type 2D",,
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,C1843225,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",,
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,C1847823,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",,
99941,Autosomal dominant Charcot-Marie-Tooth disease type 2G,C1837805,"Charcot-Marie-Tooth disease, axonal, Type 2G",,
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,C1842983,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",,
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,C1842984,"Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",,
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,C1837552,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",,
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,C3888087,"Charcot-Marie-Tooth disease, Type 2I",,
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,C1861678,"Charcot-Marie-Tooth Disease, Axonal, Type 2a1",,
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,C1836485,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",,
99948,Charcot-Marie-Tooth disease type 4A,C1859198,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",,
99949,Charcot-Marie-Tooth disease type 4C,C1866636,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",,
99950,Charcot-Marie-Tooth disease type 4D,C1832334,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D",,
99952,Charcot-Marie-Tooth disease type 4F,C3540453,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F",,
99953,Charcot-Marie-Tooth disease type 4G,C1854449,"Neuropathy, hereditary motor and sensory, Russe type",,
99954,Charcot-Marie-Tooth disease type 4H,C1836336,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H",,
99955,Charcot-Marie-Tooth disease type 4B1,C1832399,"Charcot-Marie-Tooth disease, Type 4B1",,
99956,Charcot-Marie-Tooth disease type 4B2,C1858278,"Charcot-Marie-Tooth disease, Type 4B2",,
99956,Charcot-Marie-Tooth disease type 4B2,C1858279,"Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",,
99956,Charcot-Marie-Tooth disease type 4B2,C1858280,"Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",,
99966,Atypical teratoid rhabdoid tumor,C1266184,Atypical Teratoid Rhabdoid Tumor,,
99967,Myxoid/round cell liposarcoma,C0206634,"Liposarcoma, Myxoid",,
99969,Pleomorphic liposarcoma,C0205825,"Liposarcoma, Pleomorphic",,
99970,Dedifferentiated liposarcoma,C0205824,"Liposarcoma, Dedifferentiated",,
99971,Well-differentiated liposarcoma,C1370889,"Liposarcoma, well differentiated",,
99976,Adenocarcinoma of the esophagus,C0279628,Adenocarcinoma Of Esophagus,,
99977,Squamous cell carcinoma of the esophagus,C0279626,Squamous cell carcinoma of esophagus,,
99978,Klatskin tumor,C0206702,Klatskin Tumor,,
99995,Complex regional pain syndrome type 1,C0034931,Reflex Sympathetic Dystrophy,G00-G99,Diseases of the nervous system
99995,Complex regional pain syndrome type 1,C0034931,Reflex Sympathetic Dystrophy,M00-M99,Diseases of the musculoskeletal system and connective tissue