count: 308
1ds:H00001 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)51847
2ds:H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)5482
3ds:H00003 Acute myeloid leukemia (AML)72187
4ds:H00004 Chronic myeloid leukemia (CML)33707
5ds:H00005 Chronic lymphocytic leukemia (CLL)63933
6ds:H00006 Hairy-cell leukemia12342
7ds:H00007 Hodgkin lymphoma340
8ds:H00008 Burkitt lymphoma22342
9ds:H00009 Adult T-cell leukemia22342
10ds:H00010 Multiple myeloma42581
11ds:H00012 Polycythemia vera1604
12ds:H00013 Small cell lung cancer43081
13ds:H00014 Non-small cell lung cancer33012
14ds:H00015 Malignant pleural mesothelioma33453
15ds:H00016 Oral cancer36244
16ds:H00017 Esophageal cancer59883
17ds:H00018 Gastric cancer79583
18ds:H00019 Pancreatic cancer23818
19ds:H00020 Colorectal cancer22403
20ds:H00021 Renal cell carcinoma55226
21ds:H00022 Bladder cancer88599
22ds:H00023 Testicular cancer31156
23ds:H00024 Prostate cancer42498
24ds:H00025 Penile cancer67683
25ds:H00026 Endometrial Cancer510627
26ds:H00027 Ovarian cancer33818
27ds:H00028 Choriocarcinoma78713
28ds:H00029 Vulvar cancer12342
29ds:H00030 Cervical cancer56655
30ds:H00031 Breast cancer33818
31ds:H00032 Thyroid cancer69417
32ds:H00033 Adrenal carcinoma32386
33ds:H00034 Carcinoid140
34ds:H00035 Ewing's sarcoma114
35ds:H00036 Osteosarcoma35872
36ds:H00038 Malignant melanoma43797
37ds:H00039 Basal cell carcinoma32342
38ds:H00040 Squamous cell carcinoma22428
39ds:H00041 Kaposi's sarcoma32709
40ds:H00042 Glioma58329
41ds:H00043 Neuroblastoma2259
42ds:H00044 Cancer of the anal canal12342
43ds:H00045 Malignant islet cell carcinoma140
44ds:H00046 Cholangiocarcinoma47896
45ds:H00047 Gallbladder cancer12342
46ds:H00048 Hepatocellular carcinoma22428
47ds:H00050 Synovial sarcoma11111
48ds:H00054 Nasopharyngeal cancer21501
49ds:H00055 Laryngeal cancer36244
50ds:H00056 Alzheimer's disease (AD)1331
51ds:H00057 Parkinson's disease (PD)10
52ds:H00059 Huntington's disease (HD)12736
53ds:H00061 Prion diseases; Creutzfeldt-Jacob disease (CJD); Gerstmann-Straussler disease (GSD); Gerstmann-Straussler-Scheinker disease (GSSD); Fatal familial insomnia (FFI)110
54ds:H00062 Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease11920
55ds:H00063 Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)3708
56ds:H00064 Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome1763
57ds:H00066 Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)10
58ds:H00069 Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia); Pompe disease (GSD type II); Cori disease, Forbe disease (GSD type III); Andersen disease (GSD type IV); McArdle disease (GSD type V); Hers disease (GSD type VI); Tarui disease (GSD type VII); Phosphorylase kinase deficiency (GSD type IX); Fanconi-Bickel syndrome (GSD type XI); Glycogen synthase deficiency (GSD type 0)32502
59ds:H00070 Galactosemia1129
60ds:H00079 Asthma32382
61ds:H00080 Systemic lupus erythematosus82157
62ds:H00081 Hashimoto's thyroiditis20
63ds:H00082 Graves' disease11
64ds:H00083 Allograft rejection63756
65ds:H00084 Graft-versus-host disease7750
66ds:H00085 Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 81107
67ds:H00089 IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency197
68ds:H00091 T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma3539
69ds:H00092 T-B-Severe combined immunodeficiencies (SCIDs), including the following four diseases: Adenosine deaminase (ADA) deficiency; Recombinase activating gene (RAG) deficiencies; Artemis deficiency; Reticular dysgenesis161
70ds:H00093 Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; X-linked, moderate; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; RAG deficiency with granulomas; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; Ca2+ channel deficiency; p56 Lck deficiency; CD8 deficiency42461
71ds:H00094 DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT) [DS:H00064]; Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome21450
72ds:H00095 Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect140
73ds:H00097 Chemokine receptor defect, including the following disease: WHIM syndrome1282
74ds:H00098 Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)1147
75ds:H00099 Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I); Leukocyte adhesion deficiency (II); Leukocyte adhesion deficiency (III); LAD with Rac2 deficiency1570
76ds:H00100 Neutropenic disorders, including the following three diseases: Kostmann syndrome; Cyclic neutropenia; X-linked neutropenia/myelodysplasia11516
77ds:H00101 Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome141
78ds:H00102 Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency; C1q beta-chain deficiency; C1q gamma-chain deficiency; C1r deficiency; C1s deficiency; C2 deficiency; C3 deficiency; C4 deficiency3267
79ds:H00107 Other well-defined immunodeficiency syndromes, including the following eight diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Lymphoproliferative syndrome, EBV-associated, autosomal, 1; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)31029
80ds:H00108 Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS1410
81ds:H00114 Fructose-1,6-bisphosphatase deficiency1507
82ds:H00118 Congenital disorders of glycosylation (CDG) type I149
83ds:H00119 Congenital disorders of glycosylation (CDG) type II17
84ds:H00123 Mucopolysaccharidosis type IV (MPS4), including: Morquio syndrome A (MPS4A); Morquio syndrome B (MPS4B)158
85ds:H00124 GM2 gangliosidoses, including: Tay-Sachs disease (type I); Sandhoff disease (type II); Tay-Sachs disease AB variant21
86ds:H00125 Fabry disease118
87ds:H00134 X-linked ichthyosis (XLI)1363
88ds:H00136 Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1; Niemann-Pick disease, type C217587
89ds:H00139 alpha-Mannosidosis120
90ds:H00141 Fucosidosis1109
91ds:H00149 Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10)11083
92ds:H00155 Hypercholesterolemia, including: Hypercholesterolemia, autosomal dominant; Hyperlipoproteinemia, type IIa; Hypercholesterolemia, autosomal recessive (ARH)117
93ds:H00159 Tangier disease10
94ds:H00160 Abetalipoproteinemia; Bassen-Kornzweig Disease1139
95ds:H00167 Phenylketonuria (PKU); Hyperphenylalaninemia, BH4-deficient12
96ds:H00168 Oculocutaneous albinism (OCA)169
97ds:H00170 Piebaldism1655
98ds:H00184 Hypermethioninemia; Methionine adenosyltransferase deficiency; S-adenosylhomocysteine hydrolase deficiency1129
99ds:H00191 Nonketotic hyperglycinemia; Glycine encephalopathy (GCE)10
100ds:H00192 Xanthinuria18
101ds:H00194 Lesch-Nyhan syndrome; Hypoxanthine-guanine phosophoribosyltransferase deficiency130
102ds:H00208 Hyperbilirubinemia; Crigler-Najjar syndrome, type I (CN1); Crigler-Najjar syndrome, type II (CN2); Gilbert Syndrome; Dubin-Johnson syndrome (DJS)10
103ds:H00213 Hypophosphatasia1706
104ds:H00216 Congenital adrenal hyperplasia (CAH)2628
105ds:H00218 Cystic fibrosis (CF)1124
106ds:H00219 Hemophilia, including: Hemophilia A (HEMA); Hemophilia B (HEMB); von Willebrand disease (VWD); von Willebrand disease, platelet-type1191
107ds:H00223 Inherited thrombophilia66967
108ds:H00226 Glanzmann thrombasthenia11853
109ds:H00227 Congenital amegakaryocytic thrombocytopenia (CAMT)1271
110ds:H00228 Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)161
111ds:H00229 Sickle cell anemia (SCA)161
112ds:H00230 Hereditary spherocytosis (SPH)10
113ds:H00231 Hereditary elliptocytosis (HE)10
114ds:H00232 Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)10
115ds:H00236 Congenital polycythemia; Familial erythrocytosis (ECYT)127
116ds:H00239 Bartter syndrome2455
117ds:H00241 Combined proximal and distal renal tubular acidosis (RTA type 3)13047
118ds:H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4), including: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)1466
119ds:H00246 Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)140
120ds:H00249 Thyroid hormone resistance syndrome, including: Generalized thyroid hormone resistance; Refetoff Syndrome; Selective pituitary thyroid hormone resistance11355
121ds:H00250 Congenital nongoitrous hypothyroidism (CHNG)11
122ds:H00251 Thyroid dyshormonogenesis; Dyshormogenetic goiter10
123ds:H00252 Congenital nephrogenic diabetes insipidus (NDI)1750
124ds:H00254 Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD); Combined pituitary hormone deficiency (CPHD)2108
125ds:H00255 Hypogonadotropic hypogonadism, including: Kallmann syndrome (KAL); Fertile eunuch syndrome (FEUNS)53107
126ds:H00258 Aldosterone synthase deficiency; Corticosterone methyloxidase type I deficiency; Corticosterone methyloxidase type II deficiency1340
127ds:H00259 Apparent mineralocorticoid excess syndrome; 11-beta-ketoreductase deficiency1414
128ds:H00260 Pigmented micronodular adrenocortical disease (PPNAD)165
129ds:H00264 Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy19
130ds:H00267 Holoprosencephaly (HPE)10
131ds:H00273 Pycnodysostosis11550
132ds:H00276 Galactosialidosis158
133ds:H00281 GM1 gangliosidosis158
134ds:H00285 Blau syndrome1507
135ds:H00286 Crohn's disease1507
136ds:H00294 Dilated cardiomyopathy (DCM)2244
137ds:H00296 Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome1687
138ds:H00342 Tuberculosis13892
139ds:H00344 Leprosy; Hansen disease115
140ds:H00363 Candidiasis197
141ds:H00403 Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome24750
142ds:H00408 Type I diabetes mellitus377
143ds:H00409 Type II diabetes mellitus34061
144ds:H00410 Maturity onset diabetes of the young (MODY)2343
145ds:H00419 Congenital generalized lipodystrophy (CGL)1123
146ds:H00420 Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy13129
147ds:H00428 Distal renal tubular acidosis (RTA type 1)10
148ds:H00430 Fibrodysplasia ossificans progressiva (FOP)142
149ds:H00436 Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor13047
150ds:H00443 Osteoglophonic dysplasia (OD); Osteoglophonic dwarfism (OGD)1999
151ds:H00455 Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)37301
152ds:H00457 Primary hypertrophic osteoarthropathy (PHO)16406
153ds:H00458 Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome31472
154ds:H00469 Mitochondrial DNA depletion syndrome (MDS)3219
155ds:H00472 Torg-Winchester syndrome190
156ds:H00479 Metaphyseal dysplasias, including: Metaphyseal dysplasia, Schmid type; Metaphyseal dysplasia, McKusik type; Metaphyseal dysplasia, Jansen type; Shwachman-Bodian-Diamond syndrome (SBDS); Metaphyseal anadysplasia (MAD)34565
157ds:H00480 Non-syndromic X-linked mental retardation21939
158ds:H00481 Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)2120
159ds:H00490 Diaphyseal dysplasia with anemia (Ghosal)1828
160ds:H00495 Eiken dysplasia150
161ds:H00504 Rubinstein-Taybi syndrome133
162ds:H00505 FGFR3-related short limb skeletal dysplasias, including: Achondroplasia; Hypochondroplasia; Thanatophoric dysplasia, type 1; Thanatophoric dysplasia, type 2; Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)1225
163ds:H00508 Blomstrand syndrome; Blomstrand chondrodysplasia150
164ds:H00511 Short rib-polydactyly syndrome145
165ds:H00512 Permanent neonatal diabetes mellitus (PNDM)2335
166ds:H00513 Transient neonatal diabetes mellitus (TNDM)159
167ds:H00514 Bruck syndrome10
168ds:H00516 Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate31452
169ds:H00522 TRPV4-related skeletal dysplasias, including: Autosomal dominant brachyolmia; Spondylometaphyseal dysplasia, Kozlowski type (SMDK); Metatropic dysplasia; Spondyloepiphyseal dysplasia, Maroteaux type ; Parastremmatic dysplasia11372
170ds:H00523 Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS); Watson syndrome51697
171ds:H00524 TRPV4-related peripheral neuropathies, including: Congenital distal spinal muscular atrophy (CDSMA); Scapuloperoneal spinal muscle atrophy (SPSMA); Hereditary motor and sensory neuropathy type IIC (HMSN IIC)11372
172ds:H00527 Retinitis pigmentosa (RP)3443
173ds:H00531 Venous malformations, including: Sporadic venous malformation; Cutaneomucosal venous malformation; Glomuvenous malformation1749
174ds:H00535 Lymphedemas, including: Lymphedema, hereditary I; Lymphedema-distichiasis syndrome (LD); Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS); Hennekam lymphangiectasia-lymphedema syndrome (HLLS)1485
175ds:H00539 PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome11345
176ds:H00541 Uromodulin-associated kidney diseases, including: Medullary cystic kidney disease 2; Familial juvenile hyperuremic nephropathy (HNFJ); Glomerulocystic kidney disease12298
177ds:H00548 Brunner syndrome; MAOA deficiency1784
178ds:H00552 Glycerol kinase deficiency (GKD), including: Hyperglycerolemia; Chromosome Xp21 deletion syndrome; X-linked Addison disease (AHX); Duchenne muscular dystrophy (DMD)11
179ds:H00561 Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome1835
180ds:H00574 Coffin-Lowry syndrome (CLS)1109
181ds:H00575 Renal tubular dysgenesis34819
182ds:H00577 Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMRE; MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); BFLS; CK syndrome (CKS); MICPCH; Rolandic epilepsy1207
183ds:H00598 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis161
184ds:H00599 46,XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; Glucocorticoid resistance; Aromatase deficiency33545
185ds:H00602 Glucocorticoid-remediable aldosteronism (GRA)2647
186ds:H00603 Hypertension exacerbated in pregnancy1466
187ds:H00604 Deafness, autosomal dominant113
188ds:H00606 Early infantile epileptic encephalopathy; Ohtahara syndrome31099
189ds:H00607 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD2437
190ds:H00608 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)52821
191ds:H00609 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome; Hypospadias; Cryptorchidism11920
192ds:H00612 Primary open angle glaucoma118
193ds:H00627 Premature ovarian failure3526
194ds:H00642 Lacrimo-auriculo-dento-digital syndrome (LADD); Levy-Hollister syndrome2473
195ds:H00652 Solitary median maxillary central incisor syndrome10
196ds:H00664 Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency2154
197ds:H00680 Primary failure of tooth eruption150
198ds:H00700 Centronuclear myopathy19
199ds:H00719 Leprechaunism; Donohue syndrome1695
200ds:H00720 Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)3600
201ds:H00725 Short QT syndrome159
202ds:H00728 Brugada syndrome (BRS)3546
203ds:H00729 Sick sinus syndrome (SSS); Sinus node dysfunction2190
204ds:H00730 Familial idiopathic ventricular fibrillation1185
205ds:H00731 Atrial fibrillation2244
206ds:H00739 Ichthyosis with hypotrichosis1134
207ds:H00743 Paramyotonia congenita (PMC)142
208ds:H00744 Potassium-aggravated myotonias (PAMs), including: Myotonia fluctuans; Myotonia permanens; Acetazolamide responsive myotonia142
209ds:H00745 Hyperkalemic periodic paralysis (HyperPP)142
210ds:H00746 Hypokalemic periodic paralysis (HypoPP)2270
211ds:H00749 Episodic ataxias159
212ds:H00759 Waardenburg syndrome (WS)11134
213ds:H00764 Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome1502
214ds:H00768 Nonsyndromic autosomal recessive mental retardation (NS-ARMR)1214
215ds:H00769 Hyperekplexia2361
216ds:H00770 Congenital myasthenic syndrome288
217ds:H00771 Inherited erythromelalgia (IEM); Primary erythromelalgia1456
218ds:H00772 Paroxysmal extreme pain disorder (PEPD)1456
219ds:H00774 Nav1.7-associated congenital insensitivity to pain (CIP)1456
220ds:H00775 Familial or sporadic hemiplegic migraine1161
221ds:H00783 Febrile seizures, including: Febrile convulsions; Generalized epilepsy with febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI)31692
222ds:H00784 Localized autosomal recessive hypotrichosis13892
223ds:H00787 Congenital stationary night blindness (CSNB), including: CSNB type 1 (CSNB1); CSNB type 2 (CSNB2); CSNB autosomal dominant (CSNBAD); Oguchi disease/ CSNB Oguchi type (CSNBO)178
224ds:H00794 Aromatase excess syndrome11346
225ds:H00798 Familial carpal tunnel syndrome159
226ds:H00806 Benign familial neonatal and infantile epilepsies, including: Benign familial neonatal epilepsy (BFNE); Benign familial neonatal infantile epilepsy (BFNIE); Benign familial infantile epilepsy (BFIE)2281
227ds:H00807 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)146
228ds:H00808 Idiopathic generalized epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone; Familial infantile myoclonic epilepsy (FIME)11075
229ds:H00810 Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (DRPLA); Type III Gaucher disease (GD)11083
230ds:H00815 Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; H syndrome10
231ds:H00821 Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)249
232ds:H00823 ABCD syndrome11134
233ds:H00835 Succinic semialdehyde dehydrogenase (SSADH) deficiency; 4-Hydroxybutyric aciduria (4-HBA)161
234ds:H00845 Familial amyloidosis159
235ds:H00848 Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)1763
236ds:H00851 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses1427
237ds:H00856 Distal hereditary motor neuropathies (dHMN)11372
238ds:H00881 Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL)23832
239ds:H00882 Cocoon syndrome1751
240ds:H00897 Pontocerebellar hypoplasia11
241ds:H00910 Hirschsprung disease (HD)11134
242ds:H00911 Dicarboxylic aminoaciduria1112
243ds:H00912 Tumor necrosis factor receptor-associated periodic syndrome (TRAPS); Familial periodic fever1116
244ds:H00919 Arterial tortuosity syndrome120
245ds:H00930 Hypoalphalipoproteinemia10
246ds:H00932 Tropical calcific pancreatitis11083
247ds:H00933 Hereditary pancreatitis; Hereditary chronic pancreatitis22353
248ds:H00937 Precocious puberty, including: Central precocious puberty (CEPREPU); Familial male precocious puberty (FMPP)2219
249ds:H00938 Factor XI deficiency; Plasma thromboplastin antecedent deficiency; Rosenthal syndrome198
250ds:H00941 Factor XII deficiency; Hageman factor deficiency1200
251ds:H00942 Rabson-Mendenhall syndrome1695
252ds:H00945 Factor XIII deficiency113
253ds:H00966 AICA-ribosiduria; ATIC deficiency161
254ds:H00978 Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)1103
255ds:H00986 Multiple pterygium syndrome, including: Multiple pterygium syndrome, lethal type (LMPS); Multiple pterygium syndrome, Escobar variant (EVMPS)146
256ds:H00988 Enterokinase deficiency1130
257ds:H00997 CATSHL syndrome1225
258ds:H01006 Hereditary angioedema1200
259ds:H01007 Choroid plexus papilloma12342
260ds:H01016 Primary bile acid malabsorption1186
261ds:H01018 Metachondromatosis1297
262ds:H01027 Anophthalmia and microphthalmia (A/M)10
263ds:H01031 Orthostatic intolerance (OI); Postural tachycardia syndrome (POTS)12531
264ds:H01033 Congenital bilateral absence of vas deferens1124
265ds:H01039 Ovarian hyperstimulation syndrome (OHSS)161
266ds:H01075 Peters anomaly, including: Peters plus syndrome; Peters anomaly plus systemic features118
267ds:H01078 Fletcher factor deficiency; Prekallikrein deficiency1187
268ds:H01096 Pyruvate kinase (PK) deficiency, including: Red cell pyruvate kinase (PK) deficiency; Pyruvate kinase hyperactivity110
269ds:H01102 Pituitary adenomas, including: Multiple endocrine neoplasia type 1 (MEN1); MEN1-like syndrome (MEN4); Carney complex (CNC); Familial isolated pituitary adenomas (FIPA)140
270ds:H01106 Plasminogen activator inhibitor type 1 (PAI-1) deficiency1259
271ds:H01109 Chronic mucocutaneous candidiasis (CMC); Familial candidiasis (CANDF)197
272ds:H01118 Progressive external ophthalmoplegia (PEO)119
273ds:H01126 Familial renal glucosuria (FRG)1662
274ds:H01132 Aplastic anemia (AA)2502
275ds:H01136 Carboxypeptidase N deficiency125
276ds:H01143 Vitamin D-dependent rickets23895
277ds:H01159 Anterior segment dysgenesis (ASD), including: Anterior segment mesenchymal dysgenesis; Aniridia; Axenfeld-Rieger syndrome (ARS); Peters anomaly; Iridogoniodysgenesis (IRID)118
278ds:H01160 Schizencephaly10
279ds:H01163 Corticosteroid-binding globulin (CBG) deficiency10
280ds:H01167 Gluconobacter infection1147
281ds:H01171 Poor drug metabolism (PM)11867
282ds:H01185 Cerebral amyloid angiopathy (CAA); Hereditary cerebral hemorrhage with amyloidosis1331
283ds:H01194 X-linked chondrodysplasia punctata, including: X-linked recessive chondrodysplasia punctata (CDPX1); X-linked dominant chondrodysplasia punctata (CDPX2)143
284ds:H01197 Dihydrofolate reductase (DHFR) deficiency1995
285ds:H01199 Hyperalphalipoproteinemia1609
286ds:H01203 Primary congenital glaucoma (PCG)118
287ds:H01205 Coumarin resistance; Warfarin resistance11253
288ds:H01206 Plasminogen deficiency, including: Ligneous conjunctivitis; Dysplasminogenemia11071
289ds:H01207 Trigonocephaly1999
290ds:H01210 Hypomagnesemia11
291ds:H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN); Type A insulin resistance1695
292ds:H01235 Bleeding disorder platelet-type22144
293ds:H01243 Huntington's disease-like syndrome110
294ds:H01246 Isolated congenital nail clubbing (ICNC); Isolated congenital digital clubbing16406
295ds:H01254 Congenital prothrombin deficiency15248
296ds:H01258 Generalized epilepsy and paroxysmal dyskinesia (GEPD)132
297ds:H01261 Congenital glucose-galactose malabsorption (GGM)1228
298ds:H01263 Progressive cardiac conduction defect (PCCD); Progressive familial heart block (PFHB); Lenegre-Lev disease2193
299ds:H01267 Familial hyperinsulinemic hypoglycemia (HHF)31030
300ds:H01269 Congenital hyperthyroidism, including: Familial gestational hyperthyroidism (HTFG); Hyperthyroidism non-autoimmune (HTNA)11
301ds:H01274 Growth delay due to insulin-like growth factor I resistance; IGF-I resistance11111
302ds:H01282 Spermatogenic failure2536
303ds:H01283 Malonyl-CoA decarboxylase deficiency1265
304ds:H01294 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)1750
305ds:H01295 Neurodegeneration due to cerebral folate transport deficiency10
306ds:H01299 Idiopathic pulmonary fibrosis1502
307ds:H01302 Hyperchlorhidrosis isolated (HCHLH)1529
308ds:H01309 Sarcoidosis, early-onset1507
diseaselist timestamp: Mon Jul 15 08:54:51 MDT 2019