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377788 disease

definition

An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies.

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100 Ataxia-telangiectasia

1000 Ocular albinism with late-onset sensorineural deafness

100002 Extraneural perineurioma

100003 Intraneural perineurioma

100035 Solitary necrotic nodule of the liver

100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

100069 Semantic dementia

100070 Progressive non-fluent aphasia

100075 Gastric neuroendocrine tumor

100077 Jejunal neuroendocrine tumor

100078 Ileal neuroendocrine tumor

100079 Neuroendocrine tumor of the appendix

100080 Neuroendocrine tumor of the colon

100081 Neuroendocrine tumor of the rectum

100082 Neuroendocrine tumor of the anal canal

100083 Laryngeal neuroendocrine tumor

100084 Middle ear neuroendocrine tumor

100085 Primary hepatic neuroendocrine carcinoma

100086 Gallbladder neuroendocrine tumor

1006 Alopecia antibody deficiency

1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

100924 Porphyria due to ALA dehydratase deficiency

100973 FRAXE intellectual disability

100974 FRAXF syndrome

100976 Bathing suit ichthyosis

100984 Autosomal dominant spastic paraplegia type 3

100985 Autosomal dominant spastic paraplegia type 4

100986 Autosomal recessive spastic paraplegia type 5A

100988 Autosomal dominant spastic paraplegia type 6

100989 Autosomal dominant spastic paraplegia type 8

100990 Autosomal dominant spastic paraplegia type 9

100991 Autosomal dominant spastic paraplegia type 10

100993 Autosomal dominant spastic paraplegia type 12

100994 Autosomal dominant spastic paraplegia type 13

100995 Autosomal recessive spastic paraplegia type 14

100996 Autosomal recessive spastic paraplegia type 15

100997 X-linked spastic paraplegia type 16

100998 Autosomal dominant spastic paraplegia type 17

100999 Autosomal dominant spastic paraplegia type 19

101 Dentatorubral pallidoluysian atrophy

1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia

101000 Autosomal recessive spastic paraplegia type 20

101001 Autosomal recessive spastic paraplegia type 21

101003 Autosomal recessive spastic paraplegia type 23

101004 Autosomal recessive spastic paraplegia type 24

101005 Autosomal recessive spastic paraplegia type 25

101006 Autosomal recessive spastic paraplegia type 26

101007 Autosomal recessive spastic paraplegia type 27

101008 Autosomal recessive spastic paraplegia type 28

101009 Autosomal dominant spastic paraplegia type 29

101010 Autosomal spastic paraplegia type 30

101011 Autosomal dominant spastic paraplegia type 31

101028 Transaldolase deficiency

101039 Female restricted epilepsy with intellectual disability

101046 Autosomal dominant epilepsy with auditory features

101068 Congenital stromal corneal dystrophy

101075 X-linked Charcot-Marie-Tooth disease type 1

101076 X-linked Charcot-Marie-Tooth disease type 2

101077 X-linked Charcot-Marie-Tooth disease type 3

101078 X-linked Charcot-Marie-Tooth disease type 4

101081 Charcot-Marie-Tooth disease type 1A

101082 Charcot-Marie-Tooth disease type 1B

101083 Charcot-Marie-Tooth disease type 1C

101084 Charcot-Marie-Tooth disease type 1D

101085 Charcot-Marie-Tooth disease type 1F

101096 Aregenerative anemia

101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

101101 Charcot-Marie-Tooth disease type 2B2

101102 Charcot-Marie-Tooth disease type 2H

101108 Spinocerebellar ataxia type 23

101109 Spinocerebellar ataxia type 28

101110 Spinocerebellar ataxia type 20

101111 Spinocerebellar ataxia type 25

101112 Spinocerebellar ataxia type 26

101150 Autosomal recessive dopa-responsive dystonia

101330 Porphyria cutanea tarda

101334 African tick typhus

1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

101685 Rare non-syndromic intellectual disability

1018 X-linked diffuse leiomyomatosis-Alport syndrome

102 Multiple system atrophy

1020 Early-onset autosomal dominant Alzheimer disease

1021 Amaurosis-hypertrichosis syndrome

102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation

1032 Hyperdibasic aminoaciduria type 1

103907 Chronic diarrhea due to glucoamylase deficiency

103908 Congenital sodium diarrhea

103909 Trehalase deficiency

103910 Congenital enterocyte heparan sulfate deficiency

103912 Epithelio-exfoliative colitis-deafness syndrome

103916 Autoimmune enteropathy type 2

103917 Autoimmune enteropathy type 3

103918 Tropical pancreatitis

103919 Autoimmune pancreatitis

103920 Undetermined colitis

104 Leber hereditary optic neuropathy

1040 Metaphyseal anadysplasia

104075 Adenocarcinoma of the small instestine

104076 Leiomyosarcoma of small intestine

1062 Hereditary neurocutaneous malformation

1063 Tufted angioma

1070 Anisakiasis

108 Babesiosis

1084 Isolated lissencephaly type 1 without known genetic defects

110 Bardet-Biedl syndrome

111 Barth syndrome

1115 Recessive aplasia cutis congenita of limbs

1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome

1117 Aplasia cutis-myopia syndrome

112 Bartter syndrome

1125 Ocular motor apraxia, Cogan type

113 Bazex-Dupré-Christol syndrome

1143 Neurogenic arthrogryposis multiplex congenita

1145 Infantile-onset X-linked spinal muscular atrophy

1155 Arthrogryposis due to muscular dystrophy

1159 Progressive pseudorheumatoid arthropathy of childhood

1160 Chylous ascites

1163 Aspergillosis

1164 Allergic bronchopulmonary aspergillosis

1168 Ataxia-oculomotor apraxia type 1

117 Behçet disease

1170 Autosomal recessive cerebelloparenchymal disorder type 3

1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

1173 Cerebellar ataxia-hypogonadism syndrome

1175 X-linked progressive cerebellar ataxia

1177 Early-onset cerebellar ataxia with retained tendon reflexes

1178 Ataxia-tapetoretinal degeneration syndrome

1179 Benign paroxysmal tonic upgaze of childhood with ataxia

118 Beta-mannosidosis

1180 Ataxia-hypogonadism-choroidal dystrophy syndrome

1182 Spastic ataxia with congenital miosis

1183 Opsoclonus-myoclonus syndrome

1185 Spinocerebellar ataxia-dysmorphism syndrome

1186 Infantile onset spinocerebellar ataxia

1187 Lethal ataxia with deafness and optic atrophy

119 Autosomal recessive limb-girdle muscular dystrophy type 2E

1194 TMEM70-related mitochondrial encephalo-cardio-myopathy

1195 Congenital atransferrinemia

1214 Progressive hemifacial atrophy

1215 Autosomal dominant optic atrophy plus syndrome

1216 Autosomal dominant congenital benign spinal muscular atrophy

1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome

1221 Cheilitis glandularis

1223 Balantidiasis

123 Björnstad syndrome

124 Blackfan-Diamond anemia

1240 Metaphyseal acroscyphodysplasia

1243 Best vitelliform macular dystrophy

1247 Schistosomiasis

125 Bloom syndrome

1259 Blepharoptosis-myopia-ectopia lentis syndrome

1260 Sino-auricular heart block

1263 Boomerang dysplasia

1267 Botulism

128 Diphyllobothriasis

129 Pseudopelade of Brocq

130 Brugada syndrome

1302 Cryptogenic organizing pneumonia

1303 Bronchiolitis obliterans with obstructive pulmonary disease

1304 Brucellosis

131 Budd-Chiari syndrome

1313 Infantile choroidocerebral calcification syndrome

1314 Symmetrical thalamic calcifications

132 Butyrylcholinesterase deficiency

133 Chronic beryllium disease

1331 Familial prostate cancer

1332 Medullary thyroid carcinoma

1333 Familial pancreatic carcinoma

1334 Chronic mucocutaneous candidiasis

1336 Hyperkeratosis-hyperpigmentation syndrome

134 Beta-ketothiolase deficiency

1344 Atrial standstill

1345 Cardiomyopathy-cataract-hip spine disease syndrome

135 CACH syndrome

1359 Carney complex

136 CADASIL

1361 Carnosinemia

1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia

1368 Cataract-ataxia-deafness syndrome

1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

137583 Vulvar intraepithelial neoplasia

137593 Infectious epithelial keratitis

137596 Neurotrophic keratopathy

137599 Stromal keratitis

137602 Endotheliitis

137617 Nephrogenic systemic fibrosis

137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency

137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

137639 Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

137672 Pellucid marginal degeneration

137675 Histiocytoid cardiomyopathy

137678 Czech dysplasia, metatarsal type

137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

137686 Asherman syndrome

137754 Neurological conditions associated with aminoacylase 1 deficiency

137810 Nodular cutaneous amyloidosis

137814 Macular amyloidosis

137817 Arachnoiditis

137820 Rare endometriosis

137831 X-linked intellectual disability-cerebellar hypoplasia syndrome

137834 Frank-Ter Haar syndrome

137839 Lemierre syndrome

137867 Madras motor neuron disease

137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

137902 Isolated optic nerve hypoplasia

137908 Hypotonia with lactic acidemia and hyperammonemia

137929 Neonatal brainstem dysfunction

137935 Laryngotracheal angioma

139 CHILD syndrome

139402 Drug rash with eosinophilia and systemic symptoms

139406 Encephalopathy due to prosaposin deficiency

139411 Carney triad

139414 Congenital panfollicular nevus

139417 Acute transverse myelitis

139426 Perioral myoclonia with absences

139431 Jeavons syndrome

139436 Multicentric reticulohistiocytosis

139441 Hypomyelination with atrophy of basal ganglia and cerebellum

139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts

139447 Progressive cavitating leukoencephalopathy

139455 Autosomal recessive bestrophinopathy

139480 Autosomal recessive spastic paraplegia type 39

139485 Autosomal recessive ataxia due to ubiquinone deficiency

139491 Hemochromatosis type 4

139507 African iron overload

139512 Neuropathy with hearing impairment

139515 Charcot-Marie-Tooth disease type 4J

139518 Distal hereditary motor neuropathy type 1

139525 Distal hereditary motor neuropathy type 2

139536 Distal hereditary motor neuropathy type 5

139547 Distal spinal muscular atrophy type 3

139552 Distal hereditary motor neuropathy, Jerash type

139557 X-linked distal spinal muscular atrophy type 3

139564 Hereditary sensory and autonomic neuropathy type 1B

139573 Hereditary sensory and autonomic neuropathy with deafness and global delay

139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia

139583 X-linked hereditary sensory and autonomic neuropathy with deafness

139589 Distal hereditary motor neuropathy type 7

14 Abetalipoproteinemia

140286 Secondary hypoparathyroidism due to impaired parathormon secretion

140436 Primary intraosseous venous malformation

140481 Autosomal dominant slowed nerve conduction velocity

140896 Acute respiratory coronavirus infection

140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

140922 Autosomal recessive limb-girdle muscular dystrophy type 2J

140927 Benign familial neonatal-infantile seizures

140933 Linear atrophoderma of Moulin

140941 Short stature due to primary acid-labile subunit deficiency

140957 Autosomal dominant macrothrombocytopenia

140966 Palmoplantar keratoderma, Nagashima type

140969 Saldino-Mainzer syndrome

140976 RHYNS syndrome

140989 Primary central nervous system vasculitis

141 Canavan disease

1410 Uncombable hair syndrome

141112 Nasal glial heterotopia

141179 Non-involuting congenital hemangioma

141184 Rapidly involuting congenital hemangioma

141333 Biemond syndrome type 2

1414 Cholestasis-lymphedema syndrome

1416 Familial calcium pyrophosphate deposition

142 Anaplastic thyroid carcinoma

1425 Desbuquois syndrome

1426 Greenberg dysplasia

1427 Otospondylomegaepiphyseal dysplasia

1428 Familial chondromalacia patellae

1429 Benign hereditary chorea

143 Parathyroid carcinoma

1434 Choroideremia-hypopituitarism syndrome

144 Lynch syndrome

145 Hereditary breast and ovarian cancer syndrome

1451 CINCA syndrome

1454 Joubert syndrome with hepatic defect

1459 Celiac disease-epilepsy-cerebral calcification syndrome

146 Differentiated thyroid carcinoma

1460 Isolated complex III deficiency

1467 Cogan syndrome

147 Carbamoyl-phosphate synthetase 1 deficiency

1482 Gonococcal conjunctivitis

1489 Whooping cough

1496 Corpus callosum agenesis-neuronopathy syndrome

15 Achondroplasia

150 Nasopharyngeal carcinoma

1501 Adrenocortical carcinoma

1509 Coxopodopatellar syndrome

154 Familial isolated dilated cardiomyopathy

1544 Benign focal seizures of adolescence

1546 Cryptococcosis

1549 Cryptosporidiosis

1551 Familial benign copper deficiency

156 Carnitine palmitoyl transferase 1A deficiency

1560 Cysticercosis

1561 Fatal infantile cytochrome C oxidase deficiency

156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type

156731 Dyssegmental dysplasia, Rolland-Desbuquois type

157 Carnitine palmitoyltransferase II deficiency

1572 Common variable immunodeficiency

157215 Hereditary hypophosphatemic rickets with hypercalciuria

157791 Epithelioid hemangioendothelioma

157794 Hereditary mixed polyposis syndrome

157798 Hyperplastic polyposis syndrome

157820 Cold-induced sweating syndrome

157826 Congenital epulis

157835 Paroxysmal hemicrania

157846 Neuroferritinopathy

157850 Pantothenate kinase-associated neurodegeneration

157941 Huntington disease-like 1

157946 Huntington disease-like 3

157949 Combined immunodeficiency with skin granulomas

157954 ANE syndrome

157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type

157973 Congenital muscular dystrophy due to LMNA mutation

157991 Generalized eruptive histiocytosis

157997 Benign cephalic histiocytosis

158 Systemic primary carnitine deficiency

158000 Juvenile xanthogranuloma

158003 Xanthoma disseminatum

158008 Papular xanthoma

158011 Necrobiotic xanthogranuloma

158019 Indeterminate cell histiocytosis

158022 Progressive nodular histiocytosis

158025 Hereditary progressive mucinous histiocytosis

158029 Sea-blue histiocytosis

158668 Epidermolysis bullosa simplex due to plakophilin deficiency

158673 Acral dystrophic epidermolysis bullosa

158676 Dystrophic epidermolysis bullosa, nails only

158681 Epidermolysis bullosa simplex with circinate migratory erythema

158684 Epidermolysis bullosa simplex with pyloric atresia

158687 Lethal acantholytic epidermolysis bullosa

158796 Classic mast cell leukemia

158799 Aleukemic mast cell leukemia

159 Carnitine-acylcarnitine translocase deficiency

1598 Monosomy 18p

16 Blue cone monochromatism

160 Castleman disease

160148 Cap polyposis

163 Hereditary hyperferritinemia with congenital cataracts

163525 Subacute cutaneous lupus erythematosus

163634 Maffucci syndrome

163649 Spondyloepiphyseal dysplasia, Nishimura type

163654 Spondyloepiphyseal dysplasia, Cantu type

163662 Spondyloepiphyseal dysplasia, Reardon type

163665 Spondyloepiphyseal dysplasia tarda, Kohn type

163681 Cortical dysplasia-focal epilepsy syndrome

163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome

163690 Hypotonia-cystinuria syndrome

163693 2p21 microdeletion syndrome

163696 Action myoclonus-renal failure syndrome

163699 Alveolar soft-tissue sarcoma

163703 Febrile infection-related epilepsy syndrome

163708 Cryptogenic late-onset epileptic spasms

163717 Benign familial mesial temporal lobe epilepsy

163721 Rolandic epilepsy-speech dyspraxia syndrome

163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

163898 Classic paraneoplastic limbic encephalitis

163908 Limbic encephalitis with LGI1 antibodies

163914 Limbic encephalitis with nCMAgs antibodies

163924 Non-herpetic acute limbic encephalitis

163927 Pustulosis palmaris et plantaris

163931 Acrodermatitis continua suppurativa of Hallopeau

163934 Atopic keratoconjunctivitis

163937 X-linked intellectual disability, Najm type

163956 X-linked intellectual disability, Nascimento type

163961 X-linked cerebral-cerebellar-coloboma syndrome syndrome

163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type

163971 X-linked intellectual disability, Cilliers type

163979 X-linked intellectual disability-craniofacioskeletal syndrome

163982 X-linked intellectual disability-spastic quadriparesis syndrome

163985 Hyperekplexia-epilepsy syndrome

164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation

164736 Familial advanced sleep-phase syndrome

1652 Dent disease

1653 Dentin dysplasia

1656 Dermatitis herpetiformis

1658 Absence of fingerprints-congenital milia syndrome

165805 Familial mesial temporal lobe epilepsy with febrile seizures

1659 Dermatoleukodystrophy

165955 Wound myiasis

165958 Cavitary myiasis

165991 Exercise-induced hyperinsulinism

165994 Pituitary resistance to thyroid hormone

166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly

166011 Multiple epiphyseal dysplasia, Beighton type

166016 Multiple epiphyseal dysplasia, Lowry type

166024 Multiple epiphyseal dysplasia, Al-Gazali type

166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

166032 Multiple epiphyseal dysplasia, with miniepiphyses

166035 Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

166038 Metaphyseal chondrodysplasia, Kaitila type

1661 X-linked corneal dermoid

166105 FASTKD2-related infantile mitochondrial encephalomyopathy

166108 Intellectual disability, Birk-Barel type

166113 Bazex syndrome

166119 Isolated osteopoikilosis

1662 Restrictive dermopathy

166282 Familial sick sinus syndrome

166286 Porokeratotic eccrine ostial and dermal duct nevus

166291 Dirofilariasis

166299 Benign partial epilepsy of infancy with complex partial seizures

166302 Benign partial epilepsy with secondarily generalized seizures in infancy

166305 Benign infantile seizures associated with mild gastroenteritis

166308 Benign infantile focal epilepsy with midline spikes and wave during sleep

166409 Photosensitive epilepsy

166412 Hot water reflex epilepsy

166415 Audiogenic seizures

166418 Eating reflex epilepsy

166421 Orgasm-induced seizures

166424 Thinking seizures

166427 Startle epilepsy

166430 Micturation-induced seizures

166433 Reading seizures

1667 Wolcott-Rallison syndrome

167 Chédiak-Higashi syndrome

1670 Chronic diarrhea with villous atrophy

1672 Diencephalic syndrome

1675 Dihydropyrimidine dehydrogenase deficiency

1676 Idiopathic pulmonary artery dilatation

167635 Scleromyxedema

1679 Diphtheria

168 Loose anagen syndrome

168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

168448 Spondyloepimetaphyseal dysplasia, Bieganski type

168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

168454 Spondyloepimetaphyseal dysplasia, Geneviève type

168486 Congenital neuronal ceroid lipofuscinosis

168491 Late infantile neuronal ceroid lipofuscinosis

1685 Distomatosis

168544 Spondylometaphyseal dysplasia, Golden type

168549 Axial spondylometaphyseal dysplasia

168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

168555 Spondylometaphyseal dysplasia, A4 type

168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome

168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

168577 Hereditary cryohydrocytosis with reduced stomatin

168598 Brain demyelination due to methionine adenosyltransferase deficiency

168601 Congenital enteropathy due to enteropeptidase deficiency

168606 Seborrhea-like dermatitis with psoriasiform elements

168621 Dysplasia of head of femur, Meyer type

168632 Generalized basaloid follicular hamartoma syndrome

168782 Childhood disintegrative disorder

168811 Malignant peritoneal mesothelioma

168816 Peritoneal cystic mesothelioma

168829 Primary peritoneal carcinoma

168940 Chronic eosinophilic leukemia

168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

168960 Refractory anemia with excess blasts in transformation

168966 Composite lymphoma

168999 Malignant melanoma of the mucosa

169 Ringed hair disease

169079 Cernunnos-XLF deficiency

169082 Combined immunodeficiency due to CD3gamma deficiency

169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation

169090 Combined immunodeficiency due to CRAC channel dysfunction

169095 Alymphoid cystic thymic dysgenesis

169100 Immunodeficiency due to CD25 deficiency

169105 Good syndrome

169110 Immunoglobulin heavy chain deficiency

169139 Transient hypogammaglobulinemia of infancy

169142 Recurrent infection due to specific granule deficiency

169147 Immunodeficiency due to a classical component pathway complement deficiency

169150 Immunodeficiency due to a late component of complement deficiency

169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

169157 T-B+ severe combined immunodeficiency due to CD45 deficiency

169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

169186 Autosomal recessive centronuclear myopathy

169189 Autosomal dominant centronuclear myopathy

169464 Primary CD59 deficiency

169467 Recurrent Neisseria infections due to factor D deficiency

17 Fatal infantile lactic acidosis with methylmalonic aciduria

170 Woolly hair

171 Primary sclerosing cholangitis

171430 Severe congenital nemaline myopathy

171433 Intermediate nemaline myopathy

171436 Typical nemaline myopathy

171439 Childhood-onset nemaline myopathy

171442 Adult-onset nemaline myopathy

171445 Muscle filaminopathy

171607 X-linked spastic paraplegia type 34

171612 Autosomal dominant spastic paraplegia type 37

171617 Autosomal dominant spastic paraplegia type 38

171622 Autosomal recessive spastic paraplegia type 32

171629 Autosomal recessive spastic paraplegia type 35

171676 Periventricular leukomalacia

171684 Idiopathic bilateral vestibulopathy

171690 Metabolic myopathy due to lactate transporter defect

171695 Parkinsonian-pyramidal syndrome

171700 Diffuse panbronchiolitis

171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency

171714 Amish infantile epilepsy syndrome

171723 White sponge nevus

171836 Amelogenesis imperfecta-gingival hyperplasia syndrome

171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

171851 MEDNIK syndrome

171860 Intellectual disability-cataracts-kyphosis syndrome

171863 Autosomal dominant spastic paraplegia type 42

171866 Spondyloepimetaphyseal dysplasia, aggrecan type

171881 Cap myopathy

171886 Cylindrical spirals myopathy

171889 Myopathy with hexagonally cross-linked tubular arrays

172 Progressive familial intrahepatic cholestasis

173 Cholera

174 Metaphyseal chondrodysplasia, Schmid type

175 Cartilage-hair hypoplasia

1764 Familial dysautonomia

1766 Dysequilibrium syndrome

177 Rhizomelic chondrodysplasia punctata

1775 Dyskeratosis congenita

178 Chordoma

178029 Central diabetes insipidus

178307 Reticulate acropigmentation of Kitamura

178311 Isolated sternocostoclavicular hyperostosis

178315 Undifferentiated embryonal sarcoma of the liver

178330 Heinz body anemia

178333 Åland Islands eye disease

178338 UV-sensitive syndrome

178342 Inflammatory myofibroblastic tumor

178345 Aromatase excess syndrome

178355 Smith-McCort dysplasia

178389 Osteopetrosis-hypogammaglobulinemia syndrome

178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

178400 Distal myopathy with anterior tibial onset

178461 X-linked myopathy with postural muscle atrophy

178464 Hereditary proximal myopathy with early respiratory failure

178493 Myopic macular degeneration

178506 Brain calcification, Rajab type

178509 Perry syndrome

178512 Folliculotropic mycosis fungoides

178517 Localized pagetoid reticulosis

178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

178533 Primary cutaneous gamma/delta-positive T-cell lymphoma

178536 Primary cutaneous marginal zone B-cell lymphoma

178540 Primary cutaneous follicle center lymphoma

178544 Primary cutaneous diffuse large B-cell lymphoma, leg type

179 Birdshot chorioretinopathy

179494 Obesity due to leptin receptor gene deficiency

18 Distal renal tubular acidosis

180 Choroideremia

180226 Embryonal carcinoma

180229 Polyembryoma

180234 Mixed germ cell tumor

180237 Benign tumor of fallopian tubes

180242 Malignant tumor of fallopian tubes

180247 Vaginal carcinoma

180261 Phyllode tumor of the breast

180267 Giant adenofibroma of the breast

180275 Paget disease of the nipple

180284 Benign ductal tumor of breast

1803 Thoracomelic dysplasia

182 Chromomycosis

182050 MYH9-related disease

182127 Extragonadal germinoma

1824 Lowry-Wood syndrome

1826 Frontometaphyseal dysplasia

183 Eosinophilic granulomatosis with polyangiitis

1830 Schimke immuno-osseous dysplasia

183663 Hyper-IgM syndrome with susceptibility to opportunistic infections

183666 Hyper-IgM syndrome without susceptibility to opportunistic infections

183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency

1837 Ulna metaphyseal dysplasia syndrome

183707 Neutrophil immunodeficiency syndrome

183713 Pyogenic bacterial infections due to MyD88 deficiency

1852 X-linked retinal dysplasia

1856 Spondyloperipheral dysplasia-short ulna syndrome

186 Primary biliary cholangitis

1865 Dyssegmental dysplasia, Silverman-Handmaker type

1867 Bullous dystrophy, macular type

1871 Progressive cone dystrophy

1872 Cone rod dystrophy

1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

1876 Oculogastrointestinal muscular dystrophy

1877 Muscular dystrophy-white matter spongiosis syndrome

1878 Autosomal recessive limb-girdle muscular dystrophy type 2H

188 Systemic capillary leak syndrome

1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome

189 Hidrotic ectodermal dysplasia

189427 Cushing syndrome due to macronodular adrenal hyperplasia

189439 Primary pigmented nodular adrenocortical disease

1899 Ehlers-Danlos syndrome, arthrochalasis type

190 Coats disease

1900 Ehlers-Danlos syndrome, kyphoscoliotic type

1901 Ehlers-Danlos syndrome, dermatosparaxis type

1902 Ehrlichiosis

191 Cockayne syndrome

1916 Diethylstilbestrol syndrome

1929 Rasmussen subacute encephalitis

1930 Herpes simplex encephalitis

1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

1941 Juvenile absence epilepsy

1942 Myoclonic-astastic epilepsy

1943 Infant epilepsy with migrant focal crisis

1945 Rolandic epilepsy

1947 Progressive epilepsy-intellectual disability syndrome, Finnish type

1949 Benign familial neonatal epilepsy

1951 Epilepsy-telangiectasia syndrome

1954 Congenital lethal erythroderma

1955 Spinocerebellar ataxia type 34

1956 Erythromelalgia

1957 Esthesioneuroblastoma

1959 Evans syndrome

1979 Lipodystrophy due to peptidic growth factors deficiency

198 Occipital horn syndrome

1980 Bilateral striopallidodentate calcinosis

199241 Pulmonary capillary hemangiomatosis

199247 Corticosteroid-binding globulin deficiency

199251 Ledderhose disease

199260 Calcifying aponeurotic fibroma

199267 Infantile digital fibromatosis

199276 Familial multiple lipomatosis

199279 Familial angiolipomatosis

199282 Harlequin syndrome

199285 Hereditary hypercarotenemia and vitamin A deficiency

199296 Congenital isolated ACTH deficiency

199299 Late-onset isolated ACTH deficiency

199323 Endophthalmitis

199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type

199329 Congenital myopathy, Paradas type

199337 Pancreatic insufficiency-anemia-hyperostosis syndrome

199340 Muscular dystrophy, Selcen type

199343 EAST syndrome

199348 Thiamine-responsive encephalopathy

199351 Adult-onset dystonia-parkinsonism

199354 CARASIL

199627 Atypical autism

20 3-hydroxy-3-methylglutaric aciduria

200418 Immunodeficiency with factor I anomaly

200421 Immunodeficiency with factor H anomaly

201 Cowden syndrome

202 Crandall syndrome

2020 Congenital fiber-type disproportion myopathy

2021 Fibrochondrogenesis

2022 Endomyocardial fibroelastosis

2023 Undifferentiated pleomorphic sarcoma

2030 Fibrosarcoma

2032 Idiopathic pulmonary fibrosis

2035 Lymphatic filariasis

204 Sporadic Creutzfeldt-Jakob disease

2045 FLOTCH syndrome

2047 Flynn-Aird syndrome

205 Crigler-Najjar syndrome

2054 Osteochondritis of tarsal/metatarsal bone

2056 Essential fructosuria

206470 Serous or mucinous cystadenoma of childhood

206473 Borderline epithelial tumor of ovary

206484 Gonadoblastoma

206489 Malignant germ cell tumor of the vagina

206492 Vulvovaginal rhabdomyosarcoma

206538 Malignant non-dysgerminomatous germ cell tumor of ovary

206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

206549 Autosomal recessive limb-girdle muscular dystrophy type 2L

206554 Autosomal recessive limb-girdle muscular dystrophy type 2M

206559 Autosomal recessive limb-girdle muscular dystrophy type 2N

206564 Autosomal recessive limb-girdle muscular dystrophy type 2O

206569 Immune-mediated necrotizing myopathy

206572 Overlap myositis

206575 Rippling muscle disease with myasthenia gravis

206580 Autosomal recessive lower motor neuron disease with childhood onset

206586 Neurolymphomatosis

206594 Subacute inflammatory demyelinating polyneuropathy

2066 Gamma-aminobutyric acid transaminase deficiency

2069 Gastrocutaneous syndrome

206991 Viral myositis

206994 Bacterial myositis

2070 Eosinophilic gastroenteritis

207000 Fungal myositis

2073 Narcolepsy-cataplexy syndrome

2085 Glaucoma-sleep apnea syndrome

208513 Spinocerebellar ataxia type 29

208524 Herpetiform pemphigus

2086 Optic pathway glioma

2088 Glycogen storage disease due to GLUT2 deficiency

2089 Glycogen storage disease due to hepatic glycogen synthase deficiency

208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies

209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy

209335 Autosomal dominant adult-onset proximal spinal muscular atrophy

209370 Severe neonatal-onset encephalopathy with microcephaly

209867 Autosomal dominant rhegmatogenous retinal detachment

209886 Familial juvenile hyperuricemic nephropathy type 1

209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

209905 Brain-lung-thyroid syndrome

209908 Childhood apraxia of speech

209916 Extraskeletal myxoid chondrosarcoma

209919 Idiopathic copper-associated cirrhosis

209932 Cone dystrophy with supernormal rod response

209943 IRVAN syndrome

209951 Autosomal recessive spastic paraplegia type 18

209956 Idiopathic uveal effusion syndrome

209959 Phacoanaphylactic uveitis

209964 Solitary rectal ulcer syndrome

209967 Episodic ataxia type 6

209970 Episodic ataxia type 7

209973 Benign nocturnal alternating hemiplegia of childhood

209981 IRIDA syndrome

209989 Non-papillary transitional cell carcinoma of the bladder

210 Cyclosporosis

210115 Sterile multifocal osteomyelitis with periostitis and pustulosis

210122 Congenital alveolar capillary dysplasia

210128 Urocanic aciduria

210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

210141 Inherited congenital spastic tetraplegia

210163 Congenital lethal myopathy, Compton-North type

210548 Macrocephaly-intellectual disability-autism syndrome

210571 Dystonia 16

210576 Congenital temporomandibular joint ankylosis

210584 Spindle cell hemangioma

211017 Spinocerebellar ataxia type 30

211067 Episodic ataxia type 5

2114 Hip dysplasia, Beukes type

2116 Hartnup disease

2118 Hawkinsinuria

212 Cystathioninuria

2122 Kaposiform hemangioendothelioma

2126 Solitary fibrous tumor

213 Cystinosis

2131 Alternating hemiplegia of childhood

2132 Hemoglobin C disease

2133 Hemoglobin E disease

2134 Atypical hemolytic-uremic syndrome

213504 Adenocarcinoma of ovary

213512 Malignant mixed Müllerian tumor of the ovary

213524 Hereditary site-specific ovarian cancer syndrome

213528 Rare adenocarcinoma of the breast

213531 Metaplastic carcinoma of the breast

213557 Salivary gland type cancer of the breast

213574 Rare variants of adenocarcinoma of the corpus uteri

213600 Adenosarcoma of the corpus uteri

213605 Carcinofibroma of the corpus uteri

213610 Carcinosarcoma of the corpus uteri

213615 Rhabdomyosarcoma of the corpus uteri

213625 Leiomyosarcoma of the corpus uteri

213630 Primitive neuroectodermal tumor of the corpus uteri

2137 Autoimmune hepatitis

213711 Endometrial stromal sarcoma

213716 Squamous cell carcinoma of the corpus uteri

213721 Undifferentiated carcinoma of the corpus uteri

213726 Papillary carcinoma of the corpus uteri

213731 High-grade neuroendocrine carcinoma of the corpus uteri

213736 Low-grade neuroendocrine tumor of the corpus uteri

213741 Adenoid cystic carcinoma of the corpus uteri

213746 Transitional cell carcinoma of the corpus uteri

213751 Malignant germ cell tumor of the corpus uteri

213767 Squamous cell carcinoma of the cervix uteri

213772 Adenocarcinoma of the cervix uteri

213777 High-grade neuroendocrine carcinoma of the cervix uteri

213787 Carcinosarcoma of the cervix uteri

213792 Adenosarcoma of the cervix uteri

213802 Rhabdomyosarcoma of the cervix uteri

213807 Leiomyosarcoma of the cervix uteri

213812 Primitive neuroectodermal tumor of the cervix uteri

213817 Papillary carcinoma of the cervix uteri

213823 Adenoid cystic carcinoma of the cervix uteri

213828 Adenoid basal carcinoma of the cervix uteri

213833 Glassy cell carcinoma of the cervix uteri

213837 Malignant germ cell tumor of the cervix uteri

214 Cystinuria

2148 Lissencephaly type 1 due to doublecortin gene mutation

215 Congenital stationary night blindness

2157 Histidinemia

2168 Homocarnosinosis

217012 Spinocerebellar ataxia type 31

217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

217253 Limbic encephalitis with NMDA receptor antibodies

217260 Progressive multifocal leukoencephalopathy

217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

217382 Neurodegenerative syndrome due to cerebral folate transport deficiency

217390 Combined immunodeficiency due to DOCK8 deficiency

217396 Progressive polyneuropathy with bilateral striatal necrosis

217399 Congenital insensitivity to pain with hyperhidrosis

217407 Hereditary hypotrichosis with recurrent skin vesicles

217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

217557 Pulmonary interstitial glycogenosis

217560 Neuroendocrine cell hyperplasia of infancy

217563 Neonatal acute respiratory distress due to SP-B deficiency

217566 Chronic respiratory distress with surfactant metabolism deficiency

217601 Hypertrophic cardiomyopathy due to intensive athletic training

217622 Sensorineural deafness with dilated cardiomyopathy

217656 Familial isolated arrhythmogenic right ventricular dysplasia

218 Darier disease

219 Autosomal recessive limb-girdle muscular dystrophy type 2F

2194 Anti-HLA hyperimmunization

2195 Dicarboxylic aminoaciduria

2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

2197 Idiopathic hypercalciuria

2198 Palmoplantar keratoderma-esophageal carcinoma syndrome

2199 Epidermolytic palmoplantar keratoderma

22 Succinic semialdehyde dehydrogenase deficiency

220 Denys-Drash syndrome

2200 Focal palmoplantar and gingival keratoderma

2201 Palmoplantar keratoderma-spastic paralysis syndrome

2202 Palmoplantar keratoderma-deafness syndrome

220295 Xeroderma pigmentosum-Cockayne syndrome complex

2203 Hyperlysinemia

220436 Quebec platelet disorder

220443 Bleeding diathesis due to thromboxane synthesis deficiency

220448 Macrothrombocytopenia with mitral valve insufficiency

220460 Attenuated familial adenomatous polyposis

220465 Laron syndrome with immunodeficiency

220493 Joubert syndrome with ocular defect

220497 Joubert syndrome with renal defect

221 Dermatomyositis

221039 Hereditary sclerosing poikiloderma, Weary type

221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

221046 Poikiloderma with neutropenia

221074 Marchiafava-Bignami disease

221078 Combined hyperactive dysfunction syndrome of the cranial nerves

221083 Clonic hemifacial spasm

221091 Trigeminal neuralgia

221098 Glossopharyngeal neuralgia

221106 Isolated facial myokymia

221117 Gerstmann syndrome

221139 Combined immunodeficiency with faciooculoskeletal anomalies

221142 Confetti-like macular atrophy

221150 Pitt-Hopkins-like syndrome

2218 Cervical hypertrichosis-peripheral neuropathy syndrome

222 Erosive pustular dermatosis of the scalp

2221 Acquired hypertrichosis lanuginosa

2222 Hypertrichosis lanuginosa congenita

2224 Hypertryptophanemia

223 Nephrogenic diabetes insipidus

2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome

2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome

2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

2238 Familial isolated hypoparathyroidism

225 Maternally-inherited diabetes and deafness

2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

225123 Hemochromatosis type 3

225147 Sporadic infantile bilateral striatal necrosis

225154 Familial infantile bilateral striatal necrosis

2253 Foveal hypoplasia-presenile cataract syndrome

2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function

226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs

226316 Genetic transient congenital hypothyroidism

2266 Hypotrichosis-intellectual disability, Lopes type

2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome

2273 Ichthyosis follicularis-alopecia-photophobia syndrome

2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

227535 Hereditary breast cancer

227796 Fundus albipunctatus

227972 Toxic oil syndrome

227976 Autosomal recessive optic atrophy, OPA7 type

227982 Autoimmune polyendocrinopathy type 3

227990 Autoimmune polyendocrinopathy type 4

228000 Idiopathic CD4 lymphocytopenia

228003 Severe combined immunodeficiency due to CORO1A deficiency

228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

228116 Hughes-Stovin syndrome

228119 Fusariosis

228123 Coccidioidomycosis

228140 Idiopathic ventricular fibrillation, non Brugada type

228157 Marburg acute multiple sclerosis

228165 Baló concentric sclerosis

228169 Autosomal dominant striatal neurodegeneration

228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N

228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M

228227 Late-onset focal dermal elastosis

228236 Linear focal elastosis

228240 Elastoderma

228243 Elastofibroma dorsi

228247 Acquired pseudoxanthoma elasticum

228254 Elastoma

228264 Papular elastorrhexis

228272 Primary anetoderma

228277 Familial anetoderma

228285 Acquired cutis laxa

228290 White fibrous papulosis of the neck

228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis

228299 Mid-dermal elastolysis

228374 Charcot-Marie-Tooth disease type 2B5

228379 Virus-associated trichodysplasia spinulosa

228387 Spondylo-megaepiphyseal-metaphyseal dysplasia

228423 Monocytopenia with susceptibility to infections

228426 Syndromic multisystem autoimmune disease due to Itch deficiency

228429 Generalized congenital lipodystrophy with myopathy

2289 Neuronal intranuclear inclusion disease

229 Familial aortic dissection

2290 Microvillus inclusion disease

2295 Ehlers-Danlos syndrome type 11

2297 Insulin-resistance syndrome type A

229717 Isolated agammaglobulinemia

2298 Insulin-resistance syndrome type B

23 Argininosuccinic aciduria

230 Dopamine beta-hydroxylase deficiency

2302 Asbestos intoxication

230839 Ehlers-Danlos syndrome due to tenascin-X deficiency

230845 Ehlers-Danlos syndrome, vascular-like type

230851 Ehlers-Danlos syndrome, cardiac valvular type

230857 Ehlers-Danlos/osteogenesis imperfecta syndrome

2309 Pachyonychia congenita

231 Dracunculiasis

231013 Congenital trigeminal anesthesia

231031 Erythema palmare hereditarium

231040 Familial generalized lentiginosis

231111 Drug-induced lupus erythematosus

231154 Combined immunodeficiency due to partial RAG1 deficiency

231160 Familial cerebral saccular aneurysm

2312 Transient familial neonatal hyperbilirubinemia

231237 Delta-beta-thalassemia

231242 Hemoglobin C-beta-thalassemia syndrome

231249 Hemoglobin E-beta-thalassemia syndrome

231393 Beta-thalassemia-X-linked thrombocytopenia syndrome

2314 Autosomal dominant hyper-IgE syndrome

231401 Alpha-thalassemia-myelodysplastic syndrome

231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

231445 Paraparetic variant of Guillain-Barré syndrome

231450 Acute pure sensory neuropathy

231457 Acute pandysautonomia

231466 Acute sensory ataxic neuropathy

231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

231568 Generalized dominant dystrophic epidermolysis bullosa

231573 Congenital erosive and vesicular dermatosis

231580 Primary unilateral adrenal hyperplasia

231625 Adrenocortical carcinoma with pure aldosterone hypersecretion

231632 Ectopic aldosterone-producing tumor

2318 Joubert syndrome with oculorenal defect

232 Sickle cell anemia

2331 Kawasaki disease

2334 Autosomal dominant keratitis

2337 Non-epidermolytic palmoplantar keratoderma

234 Dubin-Johnson syndrome

2340 Keratosis follicularis spinulosa decalvans

2342 Haim-Munk syndrome

2346 Angioosteohypertrophic syndrome

2348 Familial partial lipodystrophy, Dunnigan type

2349 Muscular pseudohypertrophy-hypothyroidism syndrome

2364 Glycogen storage disease due to lactate dehydrogenase deficiency

2379 Early-onset parkinsonism-intellectual disability syndrome

2380 Legg-Calvé-Perthes disease

2382 Lennox-Gastaut syndrome

238305 Infundibulo-neurohypophysitis

238329 Severe X-linked mitochondrial encephalomyopathy

238455 Infantile dystonia-parkinsonism

238459 SLC35A1-CDG

238468 Hypohidrotic ectodermal dysplasia

238475 Familial hypercholanemia

238505 Autosomal recessive lymphoproliferative disease

238523 Atypical hypotonia-cystinuria syndrome

238557 Chuvash erythrocytosis

238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

238583 Hyperphenylalaninemia

238593 IgG4-related mesenteritis

2386 Leukoencephalopathy-palmoplantar keratoderma syndrome

238606 Primary orthostatic tremor

238624 Idiopathic intracranial hypertension

238637 Megacystis-megaureter syndrome

238670 Isolated thyrotropin-releasing hormone deficiency

238688 Neonatal iodine exposure

2387 Leukonychia totalis

238722 Familial congenital mirror movements

238755 Autosomal dominant limb-girdle muscular dystrophy type 1H

2388 Choreoacanthocytosis

239 Dyggve-Melchior-Clausen disease

2390 Lichtenstein syndrome

2396 Encephalocraniocutaneous lipomatosis

2398 Multiple symmetric lipomatosis

24 Fumaric aciduria

2400 Peripheral motor neuropathy-dysautonomia syndrome

2404 Loiasis

2406 Locked-in syndrome

2407 LOC syndrome

241 Dyschromatosis universalis hereditaria

2414 Congenital pulmonary lymphangiectasia

2420 Primary pulmonary lymphoma

2431 Central bilateral macrogyria

243343 Dimethylglycine dehydrogenase deficiency

243367 Acute fatty liver of pregnancy

2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

244 Primary ciliary dyskinesia

2442 X-linked lymphoproliferative disease

244242 HELLP syndrome

244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis

244310 RFT1-CDG

2459 Mansonelliasis

247165 Infantile mercury poisoning

247198 Progressive cerebello-cerebral atrophy

247203 Collecting duct carcinoma

247234 Sporadic adult-onset ataxia of unknown etiology

247245 Superficial siderosis

247257 Inhalational anthrax

247262 Hyperphosphatasia-intellectual disability syndrome

247353 Generalized pustular psoriasis

247378 Autosomal recessive secondary polycythemia not associated with VHL gene

247511 Autosomal dominant secondary polycythemia

247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome

247525 Citrullinemia type I

247585 Citrullinemia type II

247598 Neonatal intrahepatic cholestasis due to citrin deficiency

247604 Juvenile primary lateral sclerosis

247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

247718 Inflammatory myopathy with abundant macrophages

247724 Idiopathic eosinophilic myositis

247762 Lipoblastoma

247790 FTH1-related iron overload

247794 Juvenile cataract-microcornea-renal glucosuria syndrome

2478 Megalencephalic leukoencephalopathy with subcortical cysts

247815 Autosomal recessive ataxia due to PEX10 deficiency

247834 Occult macular dystrophy

247868 NLRP12-associated hereditary periodic fever syndrome

2481 Neurocutaneous melanocytosis

248111 Juvenile Huntington disease

248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

248340 Isolated delta-storage pool disease

2494 Ménétrier disease

2495 Meningioma

25 Glutaryl-CoA dehydrogenase deficiency

2501 Metaphyseal chondrodysplasia, Spahr type

2505 Multiple benign circumferential skin creases on limbs

250831 Logopenic progressive aphasia

250932 Autosomal dominant optic atrophy and peripheral neuropathy

250977 AICA-ribosiduria

251262 Familial osteochondritis dissecans

251274 Familial hyperaldosteronism type III

251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

251282 Autosomal dominant spastic ataxia type 1

251287 Benign concentric annular macular dystrophy

251295 Pigmented paravenous retinochoroidal atrophy

251304 Infantile onset panniculitis with uveitis and systemic granulomatosis

251307 Idiopathic recurrent pericarditis

251325 Drug-induced vasculitis

251328 Unclassified vasculitis

251332 Unexplained long-lasting fever/inflammatory syndrome

251347 Ataxia-telangiectasia-like disorder

251359 Sickle cell-beta-thalassemia disease syndrome

251365 Sickle cell-hemoglobin C disease syndrome

251370 Sickle cell-hemoglobin D disease syndrome

251375 Sickle cell-hemoglobin E disease syndrome

251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

251523 Hyperzincemia and hypercalprotectinemia

251582 Gliomatosis cerebri

251589 Anaplastic astrocytoma

251595 Diffuse astrocytoma

251607 Pleomorphic xanthoastrocytoma

251612 Pilocytic astrocytoma

251618 Subependymal giant cell astrocytoma

251623 Pituicytoma

251627 Oligodendroglioma

251630 Anaplastic oligodendroglioma

251633 Low grade ependymoma

251646 Anaplastic ependymoma

251656 Oligoastrocytoma

251663 Anaplastic oligoastrocytoma

251671 Angiocentric glioma

251674 Chordoid glioma

251679 Astroblastoma

251877 Ganglioneuroblastoma

251880 Ependymoblastoma

251883 Medulloepithelioma of the central nervous system

251899 Choroid plexus carcinoma

251902 Atypical papilloma of choroid plexus

251909 Pineoblastoma

251912 Pineocytoma

251915 Papillary tumor of the pineal region

251919 Pineal parenchymal tumor of intermediate differenciation

251927 Extraventricular neurocytoma

251931 Cerebellar liponeurocytoma

251937 Gangliocytoma

251940 Desmoplastic infantile astrocytoma/ganglioglioma

251946 Dysembryoplastic neuroepithelial tumor

251949 Ganglioglioma

251957 Anaplastic ganglioglioma

251962 Papillary glioneuronal tumor

251975 Rosette-forming glioneuronal tumor of fourth ventricule

251992 Ganglioneuroma

252015 Choriocarcinoma of the central nervous system

252031 Diffuse leptomeningeal melanocytosis

252046 Meningeal melanocytoma

252050 Primary melanoma of the central nervous system

252054 Hemangioblastoma

252164 Benign schwannoma

252183 Neurofibroma

252202 Constitutional mismatch repair deficiency syndrome

252206 Melanoma and neural system tumor syndrome

254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q

254379 Linear lichen planus

254395 Actinic lichen planus

254411 Annular atrophic lichen planus

254424 Annular lichen planus

254449 Atrophic lichen planus

254463 Lichen planus pigmentosus

254478 Lichen planus pemphigoides

254492 Frontal fibrosing alopecia

254698 Epithelioid trophoblastic tumor

254851 Maternally-inherited mitochondrial dystonia

254854 Pure mitochondrial myopathy

254857 Lethal infantile mitochondrial myopathy

254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

254875 Mitochondrial DNA depletion syndrome, myopathic form

254881 Spinocerebellar ataxia with epilepsy

254886 Autosomal recessive progressive external ophthalmoplegia

254892 Autosomal dominant progressive external ophthalmoplegia

254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

254902 Renal tubulopathy-encephalopathy-liver failure syndrome

254905 Isolated cytochrome C oxidase deficiency

254913 Isolated ATP synthase deficiency

254920 Combined oxidative phosphorylation defect type 2

254925 Combined oxidative phosphorylation defect type 4

254930 Combined oxidative phosphorylation defect type 7

255132 Adult-onset autosomal recessive sideroblastic anemia

2552 Microsporidiosis

255210 Maternally-inherited Leigh syndrome

255229 Navajo neurohepatopathy

255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

255241 Leigh syndrome with leukodystrophy

255249 Leigh syndrome with nephrotic syndrome

256 Early-onset generalized limb-onset dystonia

2566 Chronic Epstein-Barr virus infection syndrome

257 Epidermolysis bullosa simplex with muscular dystrophy

2571 X-linked immunoneurologic disorder

2572 Spastic ataxia-corneal dystrophy syndrome

2573 Moyamoya disease

2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome

2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

2583 Mycetoma

2584 Classic mycosis fungoides

2587 Myeloperoxidase deficiency

2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

2591 Infantile myofibromatosis

2593 Tubular aggregate myopathy

2596 Myopathy and diabetes mellitus

25968 Benign occipital epilepsy

2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome

2598 Mitochondrial myopathy and sideroblastic anemia

25980 X-linked myopathy with excessive autophagy

26 Methylmalonic acidemia with homocystinuria

260305 Autosomal recessive sideroblastic anemia

2604 Familial visceral myopathy

2609 Isolated complex I deficiency

261 Emery-Dreifuss muscular dystrophy

26106 Hereditary diffuse gastric cancer

2611 Linear verrucous nevus syndrome

2612 Linear nevus sebaceus syndrome

2613 Nail-patella-like renal disease

26137 Juvenile temporal arteritis

261476 Xp21 microdeletion syndrome

2619 Brachydactylous dwarfism, Mseleni type

263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

263347 MRCS syndrome

263410 Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

263413 Angiosarcoma

263425 Nevus of Ota

263432 Nevus of Ito

263435 Congenital smooth muscle hamartoma

263455 Hyperinsulinism due to HNF4A deficiency

263458 Hyperinsulinism due to INSR deficiency

263463 CHST3-related skeletal dysplasia

263479 Fuchs heterochromic iridocyclitis

26348 Acquired prothrombin deficiency

263482 Spondyloepiphyseal dysplasia, Maroteaux type

263487 COG5-CDG

26349 Protein S acquired deficiency

263494 DPM3-CDG

2635 Metatropic dysplasia

263501 COG4-CDG

263508 COG1-CDG

263524 Acute necrotizing encephalopathy of childhood

263534 Acral peeling skin syndrome

263543 Generalized peeling skin syndrome

263662 Familial multiple meningioma

263665 NK-cell enteropathy

264 Autosomal dominant limb-girdle muscular dystrophy type 1B

264580 Glycogen storage disease due to liver phosphorylase kinase deficiency

264675 Hereditary pulmonary alveolar proteinosis

264688 Congenital chylothorax

264691 Isolated pulmonary capillaritis

265 Autosomal dominant limb-girdle muscular dystrophy type 1C

2655 Thanatophoric dysplasia

266 Autosomal dominant limb-girdle muscular dystrophy type 1A

2665 Congenital mesoblastic nephroma

2666 Adult familial nephronophthisis-spastic quadriparesia syndrome

267 Autosomal recessive limb-girdle muscular dystrophy type 2A

2677 Neuroepithelioma

2679 Infantile axonal neuropathy

26790 Pseudomyxoma peritonei

26791 Multiple acyl-CoA dehydrogenase deficiency

26792 Short chain acyl-CoA dehydrogenase deficiency

26793 Very long chain acyl-CoA dehydrogenase deficiency

268 Autosomal recessive limb-girdle muscular dystrophy type 2B

268114 RAS-associated autoimmune leukoproliferative disease

268129 Spheroid body myopathy

268139 Intraocular medulloepithelioma

268249 Mycophenolate mofetil embryopathy

268322 Hereditary thrombocytopenia with normal platelets

2686 Cyclic neutropenia

2688 Adult idiopathic neutropenia

269 Facioscapulohumeral dystrophy

2690 Neutropenia-monocytopenia-deafness syndrome

2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

27 Vitamin B12-unresponsive methylmalonic acidemia

270 Oculopharyngeal muscular dystrophy

2700 Noma

272 Congenital muscular dystrophy, Fukuyama type

2721 Odonto-onycho-dermal dysplasia

273 Steinert myotonic dystrophy

2737 Onchocerciasis

274 Bernard-Soulier syndrome

2744 Horizontal gaze palsy with progressive scoliosis

2746 Opsismodysplasia

275 Severe combined immunodeficiency due to DCLRE1C deficiency

2754 Joubert syndrome with orofaciodigital defect

275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections

275523 Dianzani autoimmune lymphoproliferative disease

275534 Myostatin-related muscle hypertrophy

275555 Preeclampsia

275761 Lysosomal acid lipase deficiency

275864 Behavioral variant of frontotemporal dementia

275872 Frontotemporal dementia with motor neuron disease

275944 Hemolytic disease of the newborn with Kell alloimmunization

276 T-B+ severe combined immunodeficiency due to gamma chain deficiency

276066 Bile acid CoA ligase deficiency and defective amidation

276145 Malignant epithelial tumor of the salivary glands

276148 Benign epithelial tumor of salivary glands

276152 Multiple endocrine neoplasia type 4

276174 Idiopathic recurrent stupor

276183 Spinocerebellar ataxia type 32

276193 Spinocerebellar ataxia type 35

276198 Spinocerebellar ataxia type 36

276234 Non-syndromic male infertility due to sperm motility disorder

276399 Familial multinodular goiter

2764 Osteochondritis dissecans

276402 Limbic encephalitis with caspr2 antibodies

276405 Hyperbiliverdinemia

276429 Hypnic headache

276435 Lower motor neuron syndrome with late-adult onset

276556 Hyperinsulinism due to UCP2 deficiency

276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency

276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

276621 Sporadic pheochromocytoma/secreting paraganglioma

277 Severe combined immunodeficiency due to adenosine deaminase deficiency

2785 Osteopetrosis with renal tubular acidosis

2788 Osteoporosis-pseudoglioma syndrome

2795 Polycystic ovaries-urethral sphincter dysfunction syndrome

279894 Toxic maculopathy due to antimalarial drugs

279897 Primary oculocerebral lymphoma

279904 Primary intraocular lymphoma

279914 Intermediate uveitis

279919 Infectious posterior uveitis

279922 Infectious anterior uveitis

279925 Infectious panuveitis

279928 Paraneoplastic uveitis

279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

279943 Hereditary neutrophilia

28 Vitamin B12-responsive methylmalonic acidemia

2800 Extramammary Paget disease

280062 Calciphylaxis

280071 ALG11-CDG

280133 Complement component 3 deficiency

280142 Severe combined immunodeficiency due to LCK deficiency

2802 X-linked sideroblastic anemia and spinocerebellar ataxia

280270 Pelizaeus-Merzbacher-like disease

280333 Autosomal recessive limb-girdle muscular dystrophy type 2P

280356 PLIN1-related familial partial lipodystrophy

280365 Autosomal semi-dominant severe lipodystrophic laminopathy

280379 Erythropoietic uroporphyria associated with myeloid malignancy

280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

280397 Familial Alzheimer-like prion disease

280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness

280553 Fatal infantile hypertonic myofibrillar myopathy

280569 Rapidly progressive glomerulonephritis

280598 Hereditary sensorimotor neuropathy with hyperelastic skin

2806 Subacute sclerosing leukoencephalitis

280615 Hemoglobinopathy Toms River

280620 Progressive myoclonic epilepsy type 6

280628 Familial progressive hyper- and hypopigmentation

280651 Acrodysostosis with multiple hormone resistance

280654 Autosomal recessive nail dysplasia

280671 Megaconial congenital muscular dystrophy

280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

2807 Papilloma of choroid plexus

280763 Severe intellectual disability and progressive spastic paraplegia

280774 Generalized essential telangiectasia

280779 Cutaneous collagenous vasculopathy

2809 Familial recurrent peripheral facial palsy

280914 Idiopathic anterior uveitis

280917 Idiopathic posterior uveitis

280921 Idiopathic panuveitis

281090 Syndromic X-linked ichthyosis

281122 Self-improving collodion baby

281127 Acral self-healing collodion baby

281139 Annular epidermolytic ichthyosis

281190 Congenital reticular ichthyosiform erythroderma

2812 Parana hard-skin syndrome

281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

2816 Spastic paraplegia-epilepsy-intellectual disability syndrome

2818 Spastic paraplegia-glaucoma-intellectual disability syndrome

2821 Spastic paraplegia-neuropathy-poikiloderma syndrome

282166 Inherited Creutzfeldt-Jakob disease

2822 Autosomal recessive spastic paraplegia type 11

2826 Spastic paraplegia-precocious puberty syndrome

2828 Young-onset Parkinson disease

283 Demodicidosis

2833 Stiff skin syndrome

2836 PEHO syndrome

28378 Tyrosinemia type 2

284 Alveolar echinococcosis

2841 Familial benign chronic pemphigus

284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O

284271 Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome

284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

284289 Adult-onset autosomal recessive cerebellar ataxia

2843 Pentosuria

284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

284395 Well-differentiated fetal adenocarcinoma of the lung

284400 Small cell carcinoma of the bladder

284417 Phosphoserine aminotransferase deficiency

284448 CLIPPERS

284454 Acute zonal occult outer retinopathy

284460 Acute annular outer retinopathy

2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

284979 Neonatal Marfan syndrome

284984 Aneurysm-osteoarthritis syndrome

285 Ehlers-Danlos syndrome, hypermobility type

2850 Alopecia-intellectual disability syndrome

2855 Perrault syndrome

286 Ehlers-Danlos syndrome, vascular type

2869 Peutz-Jeghers syndrome

287 Ehlers-Danlos syndrome, classic type

2875 Phakomatosis pigmentovascularis

288 Hereditary elliptocytosis

2880 Phosphoenolpyruvate carboxykinase deficiency

2881 Cutaneous photosensitivity-lethal colitis syndrome

2882 Sitosterolemia

2884 Piebaldism

2889 Pili torti

289157 Hypocalcemic vitamin D-dependent rickets

289176 Autosomal recessive hypophosphatemic rickets

289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency

289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

289326 Tropical spastic paraparesis

289347 Infective dermatitis associated with HTLV-1

289356 Primary non-gestational choriocarcinoma of ovary

289377 Early-onset myopathy with fatal cardiomyopathy

289380 Myosclerosis

289465 Isolated congenital adermatoglyphia

289478 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

289483 Intellectual disability-alacrima-achalasia syndrome

289504 Combined malonic and methylmalonic acidemia

289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

289539 BAP1-related tumor predisposition syndrome

289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

289560 Mitochondrial membrane protein-associated neurodegeneration

289586 Exfoliative ichthyosis

289596 Juvenile nasopharyngeal angiofibroma

289601 Hereditary arterial and articular multiple calcification syndrome

289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly

289666 Plasmablastic lymphoma

289682 Lymphoepithelial-like carcinoma

289685 Myopericytoma

2897 Pityriasis rubra pilaris

289891 Hypermethioninemia due to glycine N-methyltransferase deficiency

29 Mevalonic aciduria

290 Congenital rubella syndrome

2901 Neuralgic amyotrophy

2902 Idiopathic chronic eosinophilic pneumonia

2903 Familial spontaneous pneumothorax

2905 POEMS syndrome

29072 Hereditary pheochromocytoma-paraganglioma

29073 Multiple myeloma

2909 Rothmund-Thomson syndrome

291 Congenital varicella syndrome

2912 Poliomyelitis

292 Congenital enterovirus infection

29207 Reactive arthritis

2929 Juvenile polyposis syndrome

293 Congenital herpes simplex virus infection

2930 Cronkhite-Canada syndrome

293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome

293168 Infantile-onset ascending hereditary spastic paralysis

293173 Acute generalized exanthematous pustulosis

293181 Malignant migrating partial seizures of infancy

293199 Pleomorphic rhabdomyosarcoma

2932 Chronic inflammatory demyelinating polyneuropathy

293202 Epithelioid sarcoma

293208 Celiac trunk compression syndrome

293375 Grayson-Wilbrandt corneal dystrophy

293381 Epithelial recurrent erosion dystrophy

293462 Pre-Descemet corneal dystrophy

293603 Congenital hereditary endothelial dystrophy type II

293621 X-linked endothelial corneal dystrophy

293812 Fixed pigmented erythema

293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome

293825 Congenital dyserythropoietic anemia type IV

293848 Frontotemporal dementia, right temporal atrophy variant

293936 EDICT syndrome

293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy

293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome

293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

294 Fetal cytomegalovirus syndrome

2940 Porencephaly

294023 Neonatal inflammatory skin and bowel disease

294049 Reunion Island Larsen syndrome

2942 Postpoliomyelitis syndrome

2953 Ehlers-Danlos syndrome, musculocontractural type

296 Enchondromatosis

2962 De Barsy syndrome

2965 Prolactinoma

2966 Properdin deficiency

2967 Transcobalamin I deficiency

2968 Leukocyte adhesion deficiency

2969 Proteus-like syndrome

297 Tick-borne encephalitis

2971 Peroxisomal acyl-CoA oxidase deficiency

298 Mitochondrial neurogastrointestinal encephalomyopathy

29822 Spontaneous periodic hypothermia

2983 Disorder of sex development-intellectual disability syndrome

30 Hereditary orotic aciduria

300 Bifunctional enzyme deficiency

3000 Familial male-limited precocious puberty

300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

3002 Immune thrombocytopenic purpura

300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency

300293 Transient infantile hypertriglyceridemia and hepatosteatosis

300298 Severe congenital hypochromic anemia with ringed sideroblasts

300313 Congenital cataract-hearing loss-severe developmental delay syndrome

300319 Charcot-Marie-Tooth disease type 2P

300324 Persistent polyclonal B-cell lymphocytosis

300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome

300345 Autosomal systemic lupus erythematosus

300359 PLCG2-associated antibody deficiency and immune dysregulation

300373 Familial infantile gigantism

300382 Progeroid and marfanoid aspect-lipodystrophy syndrome

300385 Pituitary carcinoma

3005 Pyle disease

300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

300504 Onychocytic matricoma

300512 Onychomatricoma

300536 DDOST-CDG

300547 Autosomal recessive infantile hypercalcemia

300552 Follicular cholangitis and pancreatitis

300557 Carcinoma of the ampulla of Vater

300564 Combined pulmonary fibrosis-emphysema syndrome

300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

300576 Oligodontia-cancer predisposition syndrome

3006 Pyridoxine-dependent epilepsy

300605 Juvenile amyotrophic lateral sclerosis

300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

3008 Pyruvate carboxylase deficiency

300849 Diffuse large B-cell lymphoma of the central nervous system

300857 T-cell/histiocyte rich large B cell lymphoma

300865 Primary cutaneous anaplastic large cell lymphoma

300869 Splenic diffuse red pulp small B-cell lymphoma

300878 Hairy cell leukemia variant

300888 Diffuse large B-cell lymphoma with chronic inflammation

3010 Qazi-Markouizos syndrome

3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

302 Epidermodysplasia verruciformis

3020 Ramsay Hunt syndrome

3052 X-linked intellectual disability-seizures-psoriasis syndrome

3056 X-linked intellectual disability, Brooks type

3057 Monoamine oxidase A deficiency

306 Benign familial infantile epilepsy

3063 X-linked intellectual disability, Snyder type

306431 Acquired adult-onset immunodeficiency

306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

306507 LAMB2-related infantile-onset nephrotic syndrome

306511 Autosomal recessive spastic paraplegia type 48

306539 Hereditary acrokeratotic poikiloderma of Kindler-Weary

306550 FADD-related immunodeficiency

306553 Myospherulosis

306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

306577 Sodium channelopathy-related small fiber neuropathy

306669 Hemiparkinsonism-hemiatrophy syndrome

306674 Kufor-Rakeb syndrome

306682 Manganese poisoning

306686 Carbon monoxide-induced parkinsonism

306692 Cyanide-induced parkinsonism

306734 Primary dystonia, DYT21 type

306741 Hemidystonia-hemiatrophy syndrome

306776 Sporadic hyperekplexia

3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome

307 Juvenile myoclonic epilepsy

307766 Curly hair-acral keratoderma-caries syndrome

307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

308013 Focal acral hyperkeratosis

308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

3086 Autosomal dominant vitreoretinochoroidopathy

309031 Pancreatic triacylglycerol lipase deficiency

309108 Pancreatic colipase deficiency

309111 Combined pancreatic lipase-colipase deficiency

309147 Hyper-beta-alaninemia

30924 Primary hypomagnesemia with secondary hypocalcemia

309246 GM2 gangliosidosis, AB variant

3095 Atypical Rett syndrome

3096 Reye syndrome

309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

3099 Rheumatic fever

31 Oxoglutaricaciduria

31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

3110 Rombo syndrome

3111 Rotor syndrome

31112 Dermatofibrosarcoma protuberans

31142 Oral erosive lichen

3115 Roussy-Lévy syndrome

31150 Tangier disease

312 Epidermolytic ichthyosis

31202 Melioidosis

31204 Nocardiosis

31205 Rat-bite fever

3124 Saccharopinuria

3129 Sarcosinemia

313 Lamellar ichthyosis

3130 Satoyoshi syndrome

3137 Alpha-N-acetylgalactosaminidase deficiency

313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

313800 Optic nerve edema-splenomegaly syndrome

313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

313838 Coats plus syndrome

313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

313850 Infantile cerebellar-retinal degeneration

313855 FGFR2-related bent bone dysplasia

313892 Developmental and speech delay due to SOX5 deficiency

313920 Epstein-Barr virus-associated gastric carcinoma

313936 PENS syndrome

314 Erythroderma desquamativum

314017 Idiopathic linear interstitial keratitis

314022 Gastric adenocarcinoma and proximal polyposis of the stomach

314029 High bone mass osteogenesis imperfecta

314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

3143 Autoimmune polyendocrinopathy type 2

314373 Chronic diarrhea due to guanylate cyclase 2C overactivity

314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

314381 Hereditary sensory and autonomic neuropathy type 6

314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

314399 Autosomal dominant aplasia and myelodysplasia

314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

314419 Ameloblastoma

314422 Ameloblastic carcinoma

314473 Ovarian fibroma

314478 Ovarian fibrothecoma

314485 Young adult-onset distal hereditary motor neuropathy

3145 Nephrogenic diabetes insipidus-intracranial calcification syndrome

314566 Primary progressive apraxia of speech

314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

314603 Autosomal recessive spastic ataxia with leukoencephalopathy

314632 Parkinsonism due to ATP13A2 deficiency

314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

314647 Non-progressive cerebellar ataxia with intellectual disability

314652 Variant ABeta2M amyloidosis

314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

314667 TMEM165-CDG

314684 Primary bone lymphoma

314689 Combined immunodeficiency due to STK4 deficiency

314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency

314769 Somatomammotropinoma

314777 Familial isolated pituitary adenoma

314795 SHOX-related short stature

3148 Malignant peripheral nerve sheath tumor

314802 Short stature due to partial GHR deficiency

314811 Short stature due to GHSR deficiency

314928 Normal pressure hydrocephalus

314946 Mycobacterium xenopi infection

314950 Primary hypereosinophilic syndrome

314962 Secondary hypereosinophilic syndrome

314978 X-linked non progressive cerebellar ataxia

315 Erythrokeratoderma "en cocardes"

3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

3156 Senior-Loken syndrome

316 Progressive symmetric erythrokeratodermia

3162 Sézary syndrome

3165 Eosinophilic fasciitis

3166 Sialuria

317 Erythrokeratodermia variabilis

31709 Infantile convulsions and choreoathetosis

3173 Infantile spasms-broad thumbs syndrome

317425 Severe combined immunodeficiency due to DNA-PKcs deficiency

317473 Pancytopenia due to IKZF1 mutations

317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

3175 X-linked spasticity-intellectual disability-epilepsy syndrome

318 Acute erythroid leukemia

31825 Methanol poisoning

31826 Ethylene glycol poisoning

31827 Paraquat poisoning

31837 Pulmonary venoocclusive disease

319 Ewing sarcoma

319160 Congenital myopathy with internal nuclei and atypical cores

319189 Familial cortical myoclonus

319195 Chondroectodermal dysplasia with night blindness

319199 Autosomal recessive spastic paraplegia type 53

319213 Lujo hemorrhagic fever

319218 Ebola hemorrhagic fever

319223 Argentine hemorrhagic fever

319229 Bolivian hemorrhagic fever

319234 Venezuelan hemorrhagic fever

319239 Brazilian hemorrhagic fever

319244 Chapare hemorrhagic fever

319247 Hantavirus pulmonary syndrome

319251 Rift valley fever

319254 Kyasanur forest disease

319266 Omsk hemorrhagic fever

319276 Clear cell renal carcinoma

319298 Papillary renal cell carcinoma

319303 Chromophobe renal cell carcinoma

319308 MiT family translocation renal cell carcinoma

319314 Renal cell carcinoma associated with neuroblastoma

319319 Renal medullary carcinoma

319322 Mucinous tubular and spindle cell renal carcinoma

319325 Tubulocystic renal cell carcinoma

319332 Autosomal recessive myogenic arthrogryposis multiplex congenita

319340 Carney complex-trismus-pseudocamptodactyly syndrome

319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

319465 Inherited acute myeloid leukemia

319480 Acute myeloid leukemia with CEBPA somatic mutations

319487 Familial papillary or follicular thyroid carcinoma

319504 Combined oxidative phosphorylation defect type 8

319509 Combined oxidative phosphorylation defect type 9

319514 Combined oxidative phosphorylation defect type 13

319519 Combined oxidative phosphorylation defect type 14

319524 Combined oxidative phosphorylation defect type 15

319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

3196 Steroid dehydrogenase deficiency-dental anomalies syndrome

319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

319605 X-linked mendelian susceptibility to mycobacterial diseases

319635 Amyloidosis cutis dyschromia

319640 Retinal macular dystrophy type 2

319646 PGM1-CDG

319651 Constitutional megaloblastic anemia with severe neurologic disease

319667 Primary lymphoma of the conjunctiva

319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

3197 Hereditary hyperekplexia

3198 Stiff person syndrome and related disorders

32 Glutathione synthetase deficiency

320 Apparent mineralocorticoid excess

3202 Dehydrated hereditary stomatocytosis

3203 Overhydrated hereditary stomatocytosis

320355 Autosomal dominant spastic paraplegia type 41

320360 Maternally-inherited spastic paraplegia

320365 Autosomal dominant spastic paraplegia type 36

320370 Autosomal recessive spastic paraplegia type 43

320375 Autosomal recessive spastic paraplegia type 55

320380 Autosomal recessive spastic paraplegia type 54

320385 Autosomal recessive spastic paraplegia type 49

320391 Autosomal recessive spastic paraplegia type 46

320396 Autosomal recessive spastic paraplegia type 45

3204 Stormorken-Sjaastad-Langslet syndrome

320401 Autosomal recessive spastic paraplegia type 44

320406 Spastic paraplegia-optic atrophy-neuropathy syndrome

320411 Autosomal recessive spastic paraplegia type 56

3208 Isolated succinate-CoQ reductase deficiency

321 Multiple osteochondromas

3217 Deafness-small bowel diverticulosis-neuropathy syndrome

3221 Generalized resistance to thyroid hormone

3222 Phosphoribosylpyrophosphate synthetase superactivity

324 Fabry disease

3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

324290 Early-onset Lafora body disease

324294 T-cell immunodeficiency with epidermodysplasia verruciformis

3243 Sweet syndrome

324307 Severe lateral tibial bowing with short stature

324321 Sinoatrial node dysfunction and deafness

324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations

324381 Hereditary inclusion body myopathy type 4

324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

324422 ALG13-CDG

324442 Autosomal recessive axonal neuropathy with neuromyotonia

324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

324535 Combined oxidative phosphorylation defect type 11

324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome

324575 Hyperinsulinism due to HNF1A deficiency

324581 Benign Samaritan congenital myopathy

324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

324588 Familial dyskinesia and facial myokymia

324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

324625 Chikungunya

324632 Hendra virus infection

324636 Autoerythrocyte sensitization syndrome

324648 Invasive non-typhoidal salmonellosis

324737 SRD5A3-CDG

324964 Chronic recurrent multifocal osteomyelitis

324972 MAGIC syndrome

324977 Proteasome disability syndrome

325 Congenital factor II deficiency

325345 46,XY ovotesticular disorder of sex development

326 Congenital factor V deficiency

3260 Idiopathic hypereosinophilic syndrome

3261 Autoimmune lymphoproliferative syndrome

327 Congenital factor VII deficiency

3273 Synovial sarcoma

328 Congenital factor X deficiency

3282 Multifocal atrial tachycardia

3283 His bundle tachycardia

3286 Catecholaminergic polymorphic ventricular tachycardia

3287 Takayasu arteritis

329 Congenital factor XI deficiency

329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy

329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome

329195 Developmental delay with autism spectrum disorder and gait instability

329211 Autosomal dominant neovascular inflammatory vitreoretinopathy

329217 Cerebral sinovenous thrombosis

329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement

329242 Congenital chronic diarrhea with protein-losing enteropathy

329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

329252 Spondylocostal dysostosis-hypospadias-intellectual disability syndrome

329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q

329284 Beta-propeller protein-associated neurodegeneration

329308 Fatty acid hydroxylase-associated neurodegeneration

329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

329319 Hereditary thrombocytosis with transverse limb defect

329324 Inverse Klippel-Trénaunay syndrome

329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

329341 Limbic encephalitis with DPP6 antibodies

329457 Distal arthrogryposis type 5D

329466 Autosomal dominant focal dystonia, DYT25 type

329475 Spastic paraplegia-Paget disease of bone syndrome

329478 Adult-onset distal myopathy due to VCP mutation

329481 Lipoprotein glomerulopathy

32960 Tumor necrosis factor receptor 1 associated periodic syndrome

329874 Idiopathic giant cell myocarditis

329883 Non-hypoproteinemic hypertrophic gastropathy

329894 Juvenile overlap myositis

3299 Tetanus

329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency

329967 Intermittent hydrarthrosis

33 Isovaleric acidemia

330 Congenital factor XII deficiency

330001 Wild type ATTR amyloidosis

330015 Lead poisoning

330021 Mercury poisoning

330029 Hypotrichosis-deafness syndrome

330032 Hemoglobin Lepore-beta-thalassemia syndrome

330041 Hemoglobin M disease

330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

330058 Hydroa vacciniforme

330061 Actinic prurigo

330064 Chronic actinic dermatitis

33067 Metaphyseal chondrodysplasia, Jansen type

33069 Dravet syndrome

331 Congenital factor XIII deficiency

33111 Granulomatous slack skin

331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

331187 Immunodeficiency due to MASP-2 deficiency

331190 Immunodeficiency due to ficolin3 deficiency

3312 Thalidomide embryopathy

331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency

331226 Susceptibility to infection due to TYK2 deficiency

331235 Selective IgM deficiency

3314 Thiemann disease, familial form

3318 Essential thrombocythemia

3319 Congenital amegakaryocytic thrombocytopenia

332 Congenital intrinsic factor deficiency

33208 Idiopathic hypersomnia

3322 Hoyeraal-Hreidarsson syndrome

33226 Waldenström macroglobulinemia

3324 Familial thrombomodulin anomalies

3325 Heparin-induced thrombocytopenia

33276 Kaposi sarcoma

333 Farber disease

33314 Jessner lymphocytic infiltration of the skin

33355 Reticular dysgenesis

33364 Trichothiodystrophy

3337 Primary Fanconi syndrome

334 Familial atrial fibrillation

33408 Bullous lichen planus

3343 Toxocariasis

33475 Meningococcal meningitis

3348 Tracheobronchopathia osteochondroplastica

335 Congenital fibrinogen deficiency

3350 Tremor-nystagmus-duodenal ulcer syndrome

33543 Kleine-Levin syndrome

33572 5-oxoprolinase deficiency

33573 Gamma-glutamyl transpeptidase deficiency

33574 Gamma-glutamylcysteine synthetase deficiency

33577 Nodular non-suppurative panniculitis

337 Fibrodysplasia ossificans progressiva

338 Familial multiple fibrofolliculoma

3385 African trypanosomiasis

3386 American trypanosomiasis

3387 Isolated anterior cervical hypertrichosis

3389 Tuberculosis

3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

3392 Tularemia

340 Hemorrhagic fever-renal syndrome

3402 Transient tyrosinemia of the newborn

3406 Ulerythema ophryogenesis

34149 Autosomal dominant tubulointerstitial kidney disease

342 Familial Mediterranean fever

34217 Naxos disease

343 Hyperimmunoglobulinemia D with periodic fever

3437 Vogt-Koyanagi-Harada disease

3440 Waardenburg syndrome

345 Dissecting cellulitis of the scalp

34514 Autosomal recessive limb-girdle muscular dystrophy type 2G

34515 Autosomal recessive limb-girdle muscular dystrophy type 2I

34516 Autosomal dominant limb-girdle muscular dystrophy type 1D

34517 Autosomal dominant limb-girdle muscular dystrophy type 1E

3452 Whipple disease

34520 Congenital muscular dystrophy with integrin alpha-7 deficiency

34521 Distal myopathy with early respiratory muscle involvement

34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia

34528 Autosomal dominant primary hypomagnesemia with hypocalciuria

3453 Autoimmune polyendocrinopathy type 1

34587 Glycogen storage disease due to LAMP-2 deficiency

34592 Immunodeficiency by defective expression of HLA class 1

346 Quinquaud's folliculitis decalvans

3463 Wolfram syndrome

3464 Woodhouse-Sakati syndrome

3466 WT limb-blood syndrome

3467 Hereditary xanthinuria

347 Frasier syndrome

3471 Young syndrome

348 Fructose-1,6-bisphosphatase deficiency

349 Fucosidosis

35 Propionic acidemia

35061 Idiopathic recurrent and disabling cutaneous herpes

35062 Idiopathic disseminated cytomegalovirus infection

35063 Fulminant viral hepatitis

35064 Lethal idiopathic viral infection

35065 Idiopathic severe pneumococcemia

35069 Infantile neuroaxonal dystrophy

35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency

351 Galactosialidosis

35107 Desmosterolosis

35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

35121 Lysosomal acid phosphatase deficiency

35122 Congenital sucrase-isomaltase deficiency

35125 Epidermal nevus syndrome

35173 X-linked dominant chondrodysplasia punctata

352328 MEGDEL syndrome

352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

352403 Spectrin-associated autosomal recessive cerebellar ataxia

352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome

352470 Mitochondrial DNA deletion syndrome with progressive myopathy

352479 Autosomal recessive limb-girdle muscular dystrophy type 2U

352487 Digital anomalies-intellectual disability-short stature syndrome

352490 Autism spectrum disorder due to AUTS2 deficiency

352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

352540 Oncogenic osteomalacia

352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

352577 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

352582 Familial infantile myoclonic epilepsy

352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

352596 Progressive myoclonic epilepsy with dystonia

352629 16q24.1 microdeletion syndrome

352636 Phalangeal microgeodic syndrome

352641 Autosomal recessive cerebellar ataxia with late-onset spasticity

352649 Brain dopamine-serotonin vesicular transport disease

352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

352657 Hereditary benign intraepithelial dyskeratosis

352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

352675 X-linked Charcot-Marie-Tooth disease type 6

352682 Cobblestone lissencephaly without muscular or ocular involvement

352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

352718 Progressive retinal dystrophy due to retinol transport defect

352723 Attenuated Chédiak-Higashi syndrome

352731 Oculocutaneous albinism type 1

352740 Ocular albinism with congenital sensorineural deafness

352745 Oculocutaneous albinism type 7

352763 Scleredema

353 Autosomal recessive limb-girdle muscular dystrophy type 2C

353217 Epileptic encephalopathy with global cerebral demyelination

353220 Familial primary localized cutaneous amyloidosis

353253 Burning mouth syndrome

353298 Roifman syndrome

353344 Idiopathic macular telangiectasia type 1

353351 Idiopathic macular telangiectasia type 3

353356 Vasoproliferative tumor of the retina

354 GM1 gangliosidosis

355 Gaucher disease

356 Gerstmann-Straussler-Scheinker syndrome

35686 Serpiginous choroiditis

35687 Erdheim-Chester disease

35689 Primary lateral sclerosis

356961 SLC35A2-CDG

356978 D,L-2-hydroxyglutaric aciduria

356996 Intellectual disability-hypotonia-spasticity-sleep disorder syndrome

35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

35704 L-Arginine:glycine amidinotransferase deficiency

357043 Amyotrophic lateral sclerosis type 4

357058 Autosomal recessive cutis laxa type 2A

35706 Glutaric acidemia type 3

357064 Autosomal recessive cutis laxa type 2B

35708 Aromatic L-amino acid decarboxylase deficiency

35710 Glucose-galactose malabsorption

357154 Oral submucous fibrosis

357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

357220 Primary essential cutis verticis gyrata

357225 Primary non-essential cutis verticis gyrata

357237 Severe combined immunodeficiency due to CARD11 deficiency

357329 Cryptosporidiosis-chronic cholangitis-liver disease syndrome

358 Gitelman syndrome

35858 Gräsbeck-Imerslund disease

35878 Hyperinsulinism-hyperammonemia syndrome

35889 Acute opioid poisoning

35909 Combined deficiency of factor V and factor VIII

360 Glioblastoma

361 Familial glucocorticoid deficiency

36234 Bacterial toxic-shock syndrome

36235 Staphylococcal scarlet fever

36236 Staphylococcal scalded skin syndrome

36237 Bullous impetigo

36238 Staphylococcal necrotizing pneumonia

36258 Buerger disease

363396 High myopia-sensorineural deafness syndrome

363400 Severe neurodegenerative syndrome with lipodystrophy

363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome

363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity

363424 Multiple mitochondrial dysfunctions syndrome type 3

363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy

363478 Paratesticular adenocarcinoma

363483 Testicular teratoma

363489 Sex cord-stromal tumor of testis

363494 Non-seminomatous germ cell tumor of testis

363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

363528 Intellectual disability-strabismus syndrome

363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema

363543 Autosomal recessive limb-girdle muscular dystrophy type 2R

363549 Acute encephalopathy with biphasic seizures and late reduced diffusion

36355 P2Y12 defect

363558 New-onset refractory status epilepticus

363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

363618 LMNA-related cardiocutaneous progeria syndrome

363623 Autosomal recessive limb-girdle muscular dystrophy type 2T

363649 Mandibular hypoplasia-deafness-progeroid syndrome

363654 X-linked parkinsonism-spasticity syndrome

363665 Acroosteolysis-keloid-like lesions-premature aging syndrome

363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

363705 Craniofaciofrontodigital syndrome

363710 Spinocerebellar ataxia type 37

363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia

363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

363746 Balint syndrome

36382 Familial cervical artery dissection

36383 COL4A1-related familial vascular leukoencephalopathy

36386 Hereditary sensory and autonomic neuropathy type 1

36387 Generalized epilepsy with febrile seizures-plus

363969 Autosomal recessive cerebral atrophy

36397 Adiposis dolorosa

363976 Giant cell tumor of bone

363981 Charcot-Marie-Tooth disease type 4B3

363989 Familial benign flecked retina

363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

364 Glycogen storage disease due to glucose-6-phosphatase deficiency

364028 X-linked intellectual disability due to GRIA3 anomalies

364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

364039 Hydroa vacciniforme-like lymphoma

364043 ALK-positive large B-cell lymphoma

364055 Severe early-childhood-onset retinal dystrophy

364063 Infantile epileptic-dyskinetic encephalopathy

36412 Hypocomplementemic urticarial vasculitis

365 Glycogen storage disease due to acid maltase deficiency

366 Glycogen storage disease due to glycogen debranching enzyme deficiency

367 Glycogen storage disease due to glycogen branching enzyme deficiency

368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency

36899 Myoclonus-dystonia syndrome

369 Glycogen storage disease due to liver glycogen phosphorylase deficiency

36913 Autoimmune hypoparathyroidism

369840 Autosomal recessive limb-girdle muscular dystrophy type 2S

369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome

369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

369873 Obesity due to SIM1 deficiency

369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

369913 Combined oxidative phosphorylation defect type 17

369929 Aldosterone-producing adenoma with seizures and neurological abnormalities

369942 CADDS

369950 Intellectual disability-seizures-macrocephaly-obesity syndrome

369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome

369999 Diffuse palmoplantar keratoderma with painful fissures

37 Acrodermatitis enteropathica

370002 Focal palmoplantar keratoderma with joint keratoses

370015 Spondyloepimetaphyseal dysplasia, Isidor type

370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type

370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation

370039 Angora hair nevus

370046 Didymosis aplasticosebacea

370052 SCALP syndrome

370059 NEVADA syndrome

370076 Fetal carbamazepine syndrome

370088 Acute infantile liver failure-multisystemic involvement syndrome

370091 Oculocutaneous albinism type 5

370097 Oculocutaneous albinism type 6

370103 Primary dystonia, DYT17 type

370109 Ataxia-telangiectasia variant

370114 Combined cervical dystonia

370127 Medich giant platelet syndrome

370131 White platelet syndrome

370334 Extraskeletal Ewing sarcoma

370348 Peripheral primitive neuroectodermal tumor

370396 Small cell carcinoma of the ovary

37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

370921 STT3A-CDG

370924 STT3B-CDG

370927 SSR4-CDG

370930 XYLT1-CDG

370938 Salt-and-pepper syndrome

370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome

370959 Congenital muscular dystrophy with cerebellar involvement

370968 Congenital muscular dystrophy with intellectual disability

370980 Congenital muscular dystrophy without intellectual disability

370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy

371 Glycogen storage disease due to muscle phosphofructokinase deficiency

371007 Congenital muscular dystrophy with hyperlaxity

371364 Hypotonia-speech impairment-severe cognitive delay syndrome

371428 Multicentric osteolysis-nodulosis-arthropathy spectrum

37202 Interstitial cystitis

375 Anti-glomerular basement membrane disease

37553 Cardiodysrhythmic potassium-sensitive periodic paralysis

37559 Acquired kinky hair syndrome

37612 Episodic ataxia type 1

379 Chronic granulomatous disease

38 Acrokeratoelastoidosis of Costa

381 Griscelli disease

382 Guanidinoacetate methyltransferase deficiency

384 Palmoplantar keratoderma-sclerodactyly syndrome

386 Hepatic cystic hamartoma

388 Hirschsprung disease

38874 Dihydropyrimidinuria

39 Acromelanosis

390 Histoplasmosis

39041 Omenn syndrome

39044 Uveal melanoma

391 Classic Hodgkin lymphoma

391311 Susceptibility to viral and mycobacterial infections

391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

391320 East Texas bleeding disorder

391327 X-linked calvarial hyperostosis

391330 X-linked osteoporosis with fractures

391343 Fatal post-viral neurodegenerative disorder

391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

391351 SURF1-related Charcot-Marie-Tooth disease type 4

391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome

391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

391384 Familial episodic pain syndrome

391397 Hereditary sensory and autonomic neuropathy type 7

391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

391411 Atypical juvenile parkinsonism

391417 HSD10 disease

391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

391651 Glomus tumor

391665 Homozygous familial hypercholesterolemia

391723 Mucinous adenocarcinoma of the appendix

394 Classic homocystinuria

395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency

396 Chronic hiccup

397 Giant cell arteritis

397587 Deep dermatophytosis

397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

397596 Activated PI3K-delta syndrome

397606 PrP systemic amyloidosis

397615 Obesity due to CEP19 deficiency

397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

397685 Familial hyperprolactinemia

397692 Hereditary isolated aplastic anemia

397695 3q27.3 microdeletion syndrome

397725 COASY protein-associated neurodegeneration

397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U

397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

397750 Periodic paralysis with later-onset distal motor neuropathy

397755 Periodic paralysis with transient compartment-like syndrome

397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

397787 Severe combined immunodeficiency due to IKK2 deficiency

397922 Ferro-cerebro-cutaneous syndrome

397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

397937 Polyglucosan body myopathy type 1

397941 MAN1B1-CDG

397946 Autosomal recessive spastic paraplegia type 58

397951 Microcephaly-thin corpus callosum-intellectual disability syndrome

397959 TCR-alpha-beta-positive T-cell deficiency

397964 Combined immunodeficiency due to MALT1 deficiency

397968 Charcot-Marie-Tooth disease type 2R

397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

398053 Adenocarcinoma of the penis

398058 Squamous cell carcinoma of penis

398063 Refractory celiac disease

398073 Prader-Willi-like syndrome

398088 Hereditary cryohydrocytosis with normal stomatin

398097 Neonatal antiphospholipid syndrome

398109 Neonatal autoimmune hemolytic anemia

398117 Neonatal dermatomyositis

39812 Graft versus host disease

398124 Neonatal lupus erythematosus

398127 Neonatal scleroderma

398147 Persistent idiopathic facial pain

398961 Mucinous adenocarcinoma of ovary

398971 Clear cell adenocarcinoma of the ovary

398980 Primary peritoneal serous/papillary carcinoma

398987 Malignant teratoma of ovary

399 Huntington disease

399058 Alpha-B crystallin-related late-onset distal myopathy

399081 KLHL9-related early-onset distal myopathy

399086 Finnish upper limb-onset distal myopathy

399096 Distal anoctaminopathy

399103 Nebulin-related early-onset distal myopathy

399175 Traumatic avascular necrosis

399180 Secondary non-traumatic avascular necrosis

399293 Osteonecrosis of the jaw

399307 Idiopathic avascular necrosis

399329 Epiphysiolysis of the hip

399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation

399808 Male infertility with teratozoospermia due to single gene mutation

400 Cystic echinococcosis

401 Hymenolepiasis

401764 Pancytopenia-developmental delay syndrome

401768 Proximal myopathy with extrapyramidal signs

401777 Optic atrophy-intellectual disability syndrome

401780 Autosomal recessive spastic paraplegia type 61

401785 Autosomal recessive spastic paraplegia type 62

401795 Autosomal recessive spastic paraplegia type 59

401800 Autosomal recessive spastic paraplegia type 60

401805 Autosomal recessive spastic paraplegia type 63

401810 Autosomal recessive spastic paraplegia type 64

401815 Autosomal recessive spastic paraplegia type 66

401820 Autosomal recessive spastic paraplegia type 67

401825 Autosomal recessive spastic paraplegia type 68

401830 Autosomal recessive spastic paraplegia type 69

401835 Autosomal recessive spastic paraplegia type 70

401840 Autosomal recessive spastic paraplegia type 71

401849 Autosomal spastic paraplegia type 72

401859 Lipoic acid synthetase deficiency

401862 Lipoyl transferase 1 deficiency

401866 Childhood-onset spasticity with hyperglycinemia

401869 Multiple mitochondrial dysfunctions syndrome type 1

401874 Multiple mitochondrial dysfunctions syndrome type 2

401901 Huntington disease-like syndrome due to C9ORF72 expansions

401920 Fibrolamellar hepatocellular carcinoma

401945 Moyamoya disease with early-onset achalasia

401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

401953 Episodic ataxia with slurred speech

401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

401996 Karyomegalic interstitial nephritis

402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

402014 Acute myeloid leukemia with t(6;9)(p23;q34)

402017 Acute myeloid leukemia with t(9;11)(p22;q23)

402020 Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

402026 Acute myeloid leukemia with NPM1 somatic mutations

402035 Eosinophilic colitis

402082 Progressive myoclonic epilepsy type 5

402823 Hepatitis delta

403 Familial hyperaldosteronism type I

40366 Acitretin/etretinate embryopathy

404 Familial hyperaldosteronism type II

404454 Alacrimia-choreoathetosis-liver dysfunction syndrome

404463 Multisystemic smooth muscle dysfunction syndrome

404466 Female infertility due to zona pellucida defect

404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency

404507 Chondromyxoid fibroma

404514 Acquired cystic disease-associated renal cell carcinoma

404521 Spinal muscular atrophy with respiratory distress type 2

404546 DITRA

404553 Vasculitis due to ADA2 deficiency

404560 Familial atypical multiple mole melanoma syndrome

405 Familial hypocalciuric hypercalcemia

407 Glycine encephalopathy

408 Isolated glycerol kinase deficiency

409 Hyperkeratosis lenticularis perstans

40923 Eales disease

41 Dyschromatosis symmetrica hereditaria

411590 Wolfram-like syndrome

411593 Insulin autoimmune syndrome

411602 Hereditary late-onset Parkinson disease

411696 Proton-pump inhibitor-responsive esophageal eosinophilia

411703 Pulmonary non-tuberculous mycobacterial infection

411712 Maternal riboflavin deficiency

411777 Generalized eruptive keratoacanthoma

411788 Familial isolated trichomegaly

412 Hyperlipoproteinemia type 3

412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency

412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments

412181 Epidermolysis bullosa simplex due to BP230 deficiency

412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency

412206 Primary failure of tooth eruption

412217 Dystonia-aphonia syndrome

414 Gyrate atrophy of choroid and retina

415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

416 Primary hyperoxaluria

417 Neonatal severe primary hyperparathyroidism

41751 Bietti crystalline dystrophy

418945 Carcinoma of esophagus, salivary gland type

418951 Undifferentiated carcinoma of esophagus

418959 Squamous cell carcinoma of stomach

419 Hyperprolinemia type 1

42 Medium chain acyl-CoA dehydrogenase deficiency

420259 Secondary pulmonary alveolar proteinosis

420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement

420492 Adult-onset cervical dystonia, DYT23 type

420556 Visual snow syndrome

420561 Temple-Baraitser syndrome

420566 Bleeding disorder due to CalDAG-GEFI deficiency

420573 Severe combined immunodeficiency due to CTPS1 deficiency

420611 Transient myeloproliferative syndrome

42062 Iminoglycinuria

420686 Woolly hair-palmoplantar keratoderma syndrome

420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

420728 Combined oxidative phosphorylation defect type 20

420733 Combined oxidative phosphorylation defect type 21

420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

422 Idiopathic and/or familial pulmonary arterial hypertension

422526 Hereditary clear cell renal cell carcinoma

423 Malignant hyperthermia of anesthesia

423275 Spinocerebellar ataxia type 40

423296 Spinocerebellar ataxia type 38

423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

423717 Cutaneous larva migrans

423781 Carcinoma of stomach, salivary gland type

423786 Undifferentiated carcinoma of stomach

423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome

423968 Squamous cell carcinoma of the small intestine

423994 Squamous cell carcinoma of colon

424 Familial hyperthyroidism due to mutations in TSH receptor

424002 Squamous cell carcinoma of rectum

424016 Adenocarcinoma of the anal canal

424019 Squamous cell carcinoma of the anal canal

424027 Progressive myoclonic epilepsy type 8

424039 Squamous cell carcinoma of the pancreas

424046 Acinar cell carcinoma of pancreas

424053 Mucinous cystadenocarcinoma of the pancreas

424058 Intraductal papillary mucinous carcinoma of pancreas

424065 Solid pseudopapillary carcinoma of the pancreas

424073 Serous cystadenocarcinoma of the pancreas

424080 Osteoclastic giant cell tumor of pancreas

424107 Congenital myopathy with myasthenic-like onset

424261 Autosomal recessive limb-girdle muscular dystrophy type 2Y

424943 Adenocarcinoma of the liver and intrahepatic biliary tract

424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract

424975 Squamous cell carcinoma of liver and intrahepatic biliary tract

424982 Biliary cystadenocarcinoma

424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract

424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

425 Apolipoprotein A-I deficiency

425120 STING-associated vasculopathy with onset in infancy

42642 PFAPA syndrome

427 Familial hypoaldosteronism

429 Hypochondroplasia

43 X-linked adrenoleukodystrophy

431149 Combined immunodeficiency due to OX40 deficiency

43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency

43116 Serotonin syndrome

431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

431255 Scapuloperoneal spinal muscular atrophy

431272 X-linked scapuloperoneal muscular dystrophy

431329 Autosomal recessive spastic paraplegia type 57

431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency

432 Normosmic congenital hypogonadotropic hypogonadism

43393 Lambert-Eaton myasthenic syndrome

435 Ito hypomelanosis

435329 Familial ossifying fibroma

435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y

435438 Progressive myoclonic epilepsy type 7

435651 CIDEC-related familial partial lipodystrophy

435660 LIPE-related familial partial lipodystrophy

435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome

435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

435934 COG2-CDG

435953 Progeroid features-hepatocellular carcinoma predisposition syndrome

435988 Chronic atrial and intestinal dysrhythmia syndrome

435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

436 Hypophosphatasia

436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome

436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome

436169 Thrombomodulin-related bleeding disorder

436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

436252 Combined immunodeficiency-enteropathy spectrum

436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

437572 MYH7-related late-onset scapuloperoneal muscular dystrophy

438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency

438114 RARS-related autosomal recessive hypomyelinating leukodystrophy

438117 Steel syndrome

438134 PCNA-related progressive neurodegenerative photosensitivy syndrome

438159 STAT3-related early-onset multisystem autoimmune disease

438178 Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

438207 Severe autosomal recessive macrothrombocytopenia

438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

438274 GCGR-related hyperglucagonemia

438279 Human infection by orthopoxvirus

439202 Non-recovering obstetric brachial plexus lesion

439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

439218 KCNQ2-related epileptic encephalopathy

439224 ALECT2 amyloidosis

439232 AApoAIV amyloidosis

439254 ITM2B amyloidosis

439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

44 Neonatal adrenoleukodystrophy

440221 Congenital oculomotor nerve palsy

440233 Congenital abducens nerve palsy

440368 Necrotizing soft tissue infection

440392 Interstitial lung disease due to SP-C deficiency

440402 Interstitial lung disease due to ABCA3 deficiency

440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

440437 Familial colorectal cancer Type X

440706 Ribose-5-P isomerase deficiency

440713 Isolated sedoheptulokinase deficiency

440724 Extensive peripapillary myelinated nerve fibers

440727 Combined hamartoma of the retina and retinal pigment epithelium

441 Pure autonomic failure

442582 AH amyloidosis

442835 Undetermined early-onset epileptic encephalopathy

443070 Hemicrania continua

443073 Charcot-Marie-Tooth disease type 2S

443079 Central serous chorioretinopathy

443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

443098 Hyperostosis cranialis interna

443101 Hypothalamic adipsic hypernatraemia syndrome

443159 Lymphoplasmacytic lymphoma without IgM production

443167 NUT midline carcinoma

443173 Postpartum psychosis

443180 Spontaneous intracranial hypotension

443197 X-linked erythropoietic protoporphyria

443227 Paratyphoid fever

443236 Orthostatic intolerance due to NET deficiency

443811 PGM3-CDG

443950 DNAJB2-related Charcot-Marie-Tooth disease type 2

443988 Ventriculomegaly-cystic kidney disease

444 Marie Unna hereditary hypotrichosis

444013 Combined oxidative phosphorylation defect type 23

444048 46,XX ovarian dysgenesis-short stature syndrome

444092 Autoimmune interstitial lung disease-arthritis syndrome

444099 Autosomal dominant spastic paraplegia type 73

444138 Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

444316 Idiopathic phalangeal acro-osteolysis

444458 Combined oxidative phosphorylation defect type 24

444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

444490 Familial chylomicronemia syndrome

445018 Combined immunodeficiency due to LRBA deficiency

445038 3-methylglutaconic aciduria type 7

445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

445110 Limb-girdle muscular dystrophy due to POMK deficiency

446 Neonatal hemochromatosis

447 Paroxysmal nocturnal hemoglobinuria

447731 NIK deficiency

447737 DOCK2 deficiency

447740 Susceptibility to localized juvenile periodontitis

447760 Autosomal recessive complex spastic paraplegia type 9B

447764 IgG4-related sclerosing cholangitis

447774 Secondary sclerosing cholangitis

447777 Keratocystic odontogenic tumor

447784 Mitochondrial pyruvate carrier deficiency

447792 Hemochromatosis type 5

447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

447896 Tremor-ataxia-central hypomyelination syndrome

447954 Combined oxidative phosphorylation defect type 25

447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V

447977 Progressive scapulohumeroperoneal distal myopathy

447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

448010 CAD-CDG

448237 Zika virus disease

448251 Progressive autosomal recessive ataxia-deafness syndrome

448264 Isolated focal non-epidermolytic palmoplantar keratoderma

44890 Gastrointestinal stromal tumor

449 Hepatoblastoma

449280 Scedosporiosis

449291 Symptomatic form of fragile X syndrome in female carrier

449395 IgG4-related kidney disease

449400 IgG4-related aortitis

449427 IgG4-related pachymeningitis

449432 IgG4-related submandibular gland disease

449563 IgG4-related ophthalmic disease

449566 Eosinophilic angiocentric fibrosis

45 Adenosine monophosphate deaminase deficiency

451602 Primary cutaneous plasmacytosis

451607 Cutaneous pseudolymphoma

453510 Congenital insensitivity to pain with severe intellectual disability

453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

453533 Polyendocrine-polyneuropathy syndrome

45358 Congenital fibrosis of extraocular muscles

454 Acquired ichthyosis

45448 Miyoshi myopathy

45452 Idiopathic neonatal atrial flutter

45453 Incessant infant ventricular tachycardia

454700 Acquired Creutzfeldt-Jakob disease

454706 Progressive muscular atrophy

454710 Anti-p200 pemphigoid

454714 Plasma cell leukemia

454718 Holmes-Adie syndrome

454723 Endometrioid carcinoma of ovary

454742 Variably protease-sensitive prionopathy

454745 Kuru

454836 Avian influenza

454887 Corticobasal syndrome

455 Superficial epidermolytic ichthyosis

456312 Infantile multisystem neurologic-endocrine-pancreatic disease

456318 Hereditary sensory neuropathy-deafness-dementia syndrome

456328 X-linked myotubular myopathy-abnormal genitalia syndrome

456333 Hereditary neuroendocrine tumor of small intestine

456369 Polyglucosan body myopathy type 2

457 Harlequin ichthyosis

457050 Autosomal dominant mitochondrial myopathy with exercise intolerance

457077 TAFRO syndrome

457088 Predisposition to invasive fungal disease due to CARD9 deficiency

457095 Actinomycosis

457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

457246 Clear cell sarcoma of kidney

457252 Squamous cell carcinoma of the oral tongue

457260 X-linked intellectual disability-hypotonia-movement disorder syndrome

457265 Progressive myoclonic epilepsy type 9

457375 ITPA-related encephalopathy

457406 Multiple mitochondrial dysfunctions syndrome type 4

458718 Idiopathic spontaneous coronary artery dissection

458758 Composite hemangioendothelioma

458763 Retiform hemangioendothelioma

458768 Primary intralymphatic angioendothelioma

458785 Partially involuting congenital hemangioma

458798 Spinocerebellar ataxia type 41

458803 Spinocerebellar ataxia type 42

459033 Ataxia-oculomotor apraxia type 4

459051 Spondyloepiphyseal dysplasia, Stanescu type

459056 Autosomal recessive spastic paraplegia type 75

459353 C1 inhibitor deficiency

46 Adenylosuccinate lyase deficiency

46059 Lathosterolosis

461 Recessive X-linked ichthyosis

46135 Primary central nervous system lymphoma

46348 Paroxysmal extreme pain disorder

464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome

464318 Verrucous hemangioma

464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

464329 Kaposiform lymphangiomatosis

464336 BENTA disease

464343 Catastrophic antiphospholipid syndrome

464359 Benign metanephric tumour

464370 Neonatal alloimmune neutropenia

464440 Primary dystonia, DYT27 type

464443 COG6-CGD

464453 Acquired methemoglobinemia

464724 Fever-associated acute infantile liver failure syndrome

464756 Familial gastric type 1 neuroendocrine tumor

46486 Mucous membrane pemphigoid

46487 Acquired epidermolysis bullosa

46488 Linear IgA dermatosis

465 Congenital plasminogen activator inhibitor type 1 deficiency

46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

465508 Symptomatic form of hemochromatosis type 1

466 Fatal familial insomnia

466026 Class I glucose-6-phosphate dehydrogenase deficiency

466650 Exercise-induced malignant hyperthermia

466677 Scorpion envenomation

466682 Euthyroid Graves orbitopathy

466703 TMEM199-CDG

466718 Martinique crinkled retinal pigment epitheliopathy

466722 Autosomal recessive spastic paraplegia type 77

466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z

466775 Autosomal recessive Charcot Marie Tooth disease type 2X

466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

466801 Autosomal recessive limb-girdle muscular dystrophy type 2W

466806 Autosomal dominant thrombocytopenia with platelet secretion defect

466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

466926 Seizures-scoliosis-macrocephaly syndrome

466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy

466962 SMARCA4-deficient sarcoma of thorax

467166 Tubulinopathy-associated dysgyria

467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

468620 Intellectual disability-epilepsy-extrapyramidal syndrome

468635 Cryptogenic multifocal ulcerous stenosing enteritis

468641 Chronic enteropathy associated with SLCO2A1 gene

468661 Autosomal recessive spastic paraplegia type 74

468666 Isolated generalized anhidrosis with normal sweat glands

468672 Colobomatous macrophthalmia-microcornea syndrome

468678 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

468684 CCDC115-CDG

468699 SLC39A8-CDG

468726 Severe primary trimethylaminuria

469 Hereditary fructose intolerance

470 Lysinuric protein intolerance

47044 Hereditary papillary renal cell carcinoma

47045 Familial cold urticaria

47159 Proximal renal tubular acidosis

472 Isosporiasis

475 Joubert syndrome

476084 Autosomal recessive limb-girdle muscular dystrophy type 2X

476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

476096 Erythrokeratodermia-cardiomyopathy syndrome

476102 Hereditary pediatric Behçet-like disease

476113 TFRC-related combined immunodeficiency

47612 Felty syndrome

476406 Congenital generalized hypercontractile muscle stiffness syndrome

477 KID syndrome

477650 Fibroblastic rheumatism

477661 IL21-related infantile inflammatory bowel disease

477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

477684 Combined oxidative phosphorylation defect type 26

477738 Pediatric multiple sclerosis

477742 Nodular fasciitis

477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy

477774 Combined oxidative phosphorylation defect type 27

477781 Primary condylar hyperplasia

477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

478 Kallmann syndrome

478042 Combined oxidative phosphorylation defect type 30

478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

478664 Congenital insensitivity to pain-hypohidrosis syndrome

480 Kearns-Sayre syndrome

480506 Primary intrahepatic lithiasis

480512 Idiopathic ductopenia

480524 Idiopathic peliosis hepatis

480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

480553 Aneurysmal bone cyst

480556 Isolated neonatal sclerosing cholangitis

480682 Autosomal recessive limb-girdle muscular dystrophy type 2Z

480701 Facial diplegia with paresthesias

480851 Hereditary thrombocytopenia with early-onset myelofibrosis

480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

481 Kennedy disease

48104 Pyoderma gangrenosum

481662 Familial Chilblain lupus

481665 UPS18 deficiency

482 Kimura disease

482077 HTRA1-related autosomal dominant cerebral small vessel disease

482601 Adenylosuccinate synthetase-like 1-related distal myopathy

483 Congenital high-molecular-weight kininogen deficiency

48372 Nodular regenerative hyperplasia of the liver

48377 Subcorneal pustular dermatosis

48435 Postinfectious vasculitis

485 Kniest dysplasia

485418 EMILIN-1-related connective tissue disease

485426 Isolated congenital hepatic fibrosis

486 Autosomal dominant severe congenital neutropenia

486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures

486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

48686 Primary effusion lymphoma

487 Krabbe disease

487809 Pediatric collagenous gastritis

487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

48818 Aceruloplasminemia

488191 Female infertility due to oocyte meiotic arrest

488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

488239 Acute macular neuroretinopathy

488265 Osteofibrous dysplasia

488280 14q32 duplication syndrome

488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W

488594 Autosomal recessive spastic paraplegia type 76

488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome

488647 DDX41-related hematologic malignancy predisposition syndrome

488650 Distal myopathy, Tateyama type

48918 Focal myositis

49041 IgG4-related retroperitoneal fibrosis

49042 Dentinogenesis imperfecta

492 Proliferating trichilemmal cyst

493 Familial keratoacanthoma

493342 Vibratory urticaria

493348 Vibratory angioedema

49382 Achromatopsia

494 Keratoderma hereditarium mutilans

494348 Early-onset familial noncirrhotic portal hypertension

494428 Idiopathic pleuroparenchymal fibroelastosis

494433 MIRAGE syndrome

494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

494448 Vulvar squamous cell carcinoma

494451 Vulvar basal cell carcinoma

494454 Vulvar adenocarcinoma

494526 Infantile-onset generalized dyskinesia with orofacial involvement

494541 Childhood-onset benign chorea with striatal involvement

495 Transgrediens et progrediens palmoplantar keratoderma

495274 Charcot-Marie-Tooth disease type 2T

49566 Acquired purpura fulminans

495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

495930 Familial monosomy 7 syndrome

497737 Epidermolytic nevus

497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2

497764 Spinocerebellar ataxia type 43

497906 Childhood-onset basal ganglia degeneration syndrome

49804 Lichen amyloidosis

49827 Thiamine-responsive megaloblastic anemia syndrome

498474 Hyaline fibromatosis syndrome

499 Kerion celsi

5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

50 Aicardi syndrome

501 Lafora disease

50251 Pleural mesothelioma

504 Creeping myiasis

505 Graham Little-Piccardi-Lassueur syndrome

507 Leishmaniasis

50811 Lipodystrophy-intellectual disability-deafness syndrome

50812 Zellweger-like syndrome without peroxisomal anomalies

50839 Cat-scratch disease

509 Leptospirosis

50918 Kikuchi-Fujimoto disease

50920 Multiple fibroadenoma of the breast

50942 Striate palmoplantar keratoderma

50943 Keratolytic winter erythema

50944 Schöpf-Schulz-Passarge syndrome

51 Aicardi-Goutières syndrome

510 Lesch-Nyhan syndrome

51083 Familial short QT syndrome

51084 Torsade-de-pointes syndrome with short coupling interval

511 Maple syrup urine disease

51188 Ethylmalonic encephalopathy

512 Metachromatic leukodystrophy

51208 Formiminoglutamic aciduria

514 Acute monoblastic leukemia

51608 Generalized arterial calcification of infancy

51636 WHIM syndrome

517 Acute myelomonocytic leukemia

518 Acute megakaryoblastic leukemia

51890 Anterior cutaneous nerve entrapment syndrome

520 Acute promyelocytic leukemia

521 Chronic myeloid leukemia

523 Hereditary leiomyomatosis and renal cell cancer

52368 Mohr-Tranebjaerg syndrome

524 Li-Fraumeni syndrome

52416 Mantle cell lymphoma

52417 MALT lymphoma

52427 Retinitis punctata albescens

52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

525 Lichen planopilaris

52503 X-linked creatine transporter deficiency

52530 Pseudo-von Willebrand disease

526 Liddle syndrome

528 Berardinelli-Seip congenital lipodystrophy

529 Roch-Leri mesosomatous lipomatosis

52901 Isolated follicle stimulating hormone deficiency

52994 Orbital leiomyoma

53296 Familial cutaneous collagenoma

533 Listeriosis

53347 Brody myopathy

53351 X-linked dystonia-parkinsonism

53372 Hereditary geniospasm

53540 Goldmann-Favre syndrome

53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

53689 Congenital chloride diarrhea

53690 Congenital lactase deficiency

53693 GRACILE syndrome

53698 Hyaline body myopathy

53715 Familial tumoral calcinosis

538 Lymphangioleiomyomatosis

54 X-linked recessive ocular albinism

540 Familial hemophagocytic lymphohistiocytosis

54028 Plummer-Vinson syndrome

54057 Thrombotic thrombocytopenic purpura

54247 Posterior cortical atrophy

54251 Corticosteroid-sensitive aseptic abscess syndrome

54260 Left ventricular noncompaction

54272 Hepatocellular adenoma

543 Burkitt lymphoma

54368 Sarcocystosis

54370 Primary membranoproliferative glomerulonephritis

545 Follicular lymphoma

54595 Craniopharyngioma

548 Leprosy

549 Legionellosis

550 MELAS

551 MERRF

552 MODY

55595 Autosomal dominant limb-girdle muscular dystrophy type 1F

55596 Autosomal dominant limb-girdle muscular dystrophy type 1G

556 Malakoplakia

55654 Hypotrichosis simplex

55655 Pneumococcal meningitis

558 Marfan syndrome

55880 Chondrosarcoma

55881 Adamantinoma

559 Marinesco-Sjögren syndrome

56 Alkaptonuria

562 McCune-Albright syndrome

563 Peripartum cardiomyopathy

56425 Cold agglutinin disease

565 Menkes disease

569 Familial or sporadic hemiplegic migraine

57 Glycogen storage disease due to aldolase A deficiency

570 Moebius syndrome

57145 SUNCT syndrome

57196 Medial condensing osteitis of the clavicle

572 Immunodeficiency by defective expression of HLA class 2

573 Monilethrix

575 Muckle-Wells syndrome

576 Mucolipidosis type II

577 Mucolipidosis type III

57777 Cirrhotic cardiomyopathy

578 Mucolipidosis type IV

579 Mucopolysaccharidosis type 1

58 Alexander disease

580 Mucopolysaccharidosis type 2

58017 Classic hairy cell leukemia

58040 Osteoblastoma

581 Mucopolysaccharidosis type 3

582 Mucopolysaccharidosis type 4

583 Mucopolysaccharidosis type 6

584 Mucopolysaccharidosis type 7

585 Multiple sulfatase deficiency

586 Cystic fibrosis

587 Muir-Torre syndrome

588 Muscle-eye-brain disease

589 Myasthenia gravis

59 Allan-Herndon-Dudley syndrome

590 Congenital myasthenic syndrome

591 Furuncular myiasis

59135 Laing early-onset distal myopathy

59181 Sorsby pseudoinflammatory fundus dystrophy

592 Macrophagic myofasciitis

59298 Schilder disease

59303 Neonatal ichthyosis-sclerosing cholangitis syndrome

59306 McLeod neuroacanthocytosis syndrome

596 X-linked centronuclear myopathy

597 Central core disease

598 Multiminicore myopathy

6 3-methylcrotonyl-CoA carboxylase deficiency

60 Alpha-1-antitrypsin deficiency

600 Distal myopathy with vocal cord weakness

60014 Argyria

60025 Pulmonary alveolar microlithiasis

60026 Pulmonary nodular lymphoid hyperplasia

60032 Recurrent respiratory papillomatosis

60033 Idiopathic bronchiectasis

60039 Pudendal neuralgia

60041 Congenital heart block

602 GNE myopathy

603 Distal myopathy, Welander type

606 Proximal myotonic myopathy

609 Tibial muscular dystrophy

61 Alpha-mannosidosis

610 Bethlem myopathy

611 Inclusion body myositis

614 Thomsen and Becker disease

615 Familial atrial myxoma

616 Medulloblastoma

618 Familial melanoma

62 Autosomal recessive limb-girdle muscular dystrophy type 2D

621 Hereditary methemoglobinemia

622 Homocystinuria without methylmalonic aciduria

626 Large congenital melanocytic nevus

628 Diastrophic dwarfism

63 Alport syndrome

631 Non-acquired isolated growth hormone deficiency

63273 Distal myopathy with posterior leg and anterior hand involvement

63275 Pemphigoid gestationis

633 Laron syndrome

634 Netherton syndrome

63455 Paraneoplastic pemphigus

635 Neuroblastoma

636 Neurofibromatosis type 1

637 Neurofibromatosis type 2

639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

63999 IgG4-related mediastinitis

64 Alström syndrome

641 Multifocal motor neuropathy

642 Hereditary sensory and autonomic neuropathy type 4

64280 Childhood absence epilepsy

643 Giant axonal neuropathy

644 NARP syndrome

64545 Benign idiopathic neonatal seizures

646 Niemann-Pick disease type C

64686 Tolosa-Hunt syndrome

64692 Oroya fever

64694 Trench fever

64720 Leiomyosarcoma

64722 Granulomatous mastitis

64734 Iridocorneal endothelial syndrome

64739 Ovarian hyperstimulation syndrome

64740 Recurrent acute pancreatitis

64741 Pulmonary blastoma

64742 Pleuropulmonary blastoma

64743 Hepatoportal sclerosis

64744 IgG4-related thyroid disease

64745 Pruritic urticarial papules and plaques of pregnancy

64748 Dejerine-Sottas syndrome

64751 Hereditary motor and sensory neuropathy type 5

64752 Hereditary sensory and autonomic neuropathy type 5

64753 Spinocerebellar ataxia with axonal neuropathy type 2

64754 Nevus comedonicus syndrome

64755 Becker nevus syndrome

65 Leber congenital amaurosis

650 LCAT deficiency

652 Multiple endocrine neoplasia type 1

65250 Perineural cyst

65282 Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

65284 Biotin-responsive basal ganglia disease

65285 Lhermitte-Duclos disease

65287 Beta-ureidopropionase deficiency

653 Multiple endocrine neoplasia type 2

654 Nephroblastoma

655 Nephronophthisis

656 Familial idiopathic steroid-resistant nephrotic syndrome

65682 Benign recurrent intrahepatic cholestasis

65683 Isolated focal cortical dysplasia

65684 Monomelic amyotrophy

65748 Multiple self-healing squamous epithelioma

659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques

661 Ondine syndrome

662 Yellow nail syndrome

663 Maternally-inherited progressive external ophthalmoplegia

664 Ornithine transcarbamylase deficiency

66518 Short fifth metacarpals-insulin resistance syndrome

66529 Tako-Tsubo cardiomyopathy

666 Osteogenesis imperfecta

66624 PANDAS

66627 Pigmented villonodular synovitis

66628 Obesity due to congenital leptin deficiency

66630 Congenital pseudoarthrosis of the clavicle

66631 CEDNIK syndrome

66634 Dilated cardiomyopathy with ataxia

66661 Mast cell sarcoma

66662 Extracutaneous mastocytoma

668 Osteosarcoma

67 Amoebiasis due to Entamoeba histolytica

67036 Autosomal dominant optic atrophy and cataract

67037 Squamous cell carcinoma of head and neck

67038 B-cell chronic lymphocytic leukemia

67039 Segmental odontomaxillary dysplasia

67041 Hyaluronidase deficiency

67042 Late-onset retinal degeneration

67043 Acanthamoeba keratitis

67044 Thrombocytopenia with congenital dyserythropoietic anemia

67046 3-methylglutaconic aciduria type 1

67047 3-methylglutaconic aciduria type 3

67048 3-methylglutaconic aciduria type 4

673 Malaria

676 Hereditary chronic pancreatitis

677 Pancreatoblastoma

678 Papillon-Lefèvre syndrome

679 Malignant atrophic papulosis

68 Amoebiasis due to free-living amoebae

681 Hypokalemic periodic paralysis

682 Hyperkalemic periodic paralysis

683 Progressive supranuclear palsy

684 Paramyotonia congenita of Von Eulenburg

69063 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

69076 Familial renal glucosuria

69077 Rhabdoid tumor

69078 Liposarcoma

69087 Naegeli-Franceschetti-Jadassohn syndrome

69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

69663 Low phospholipid associated cholelithiasis

69665 Intrahepatic cholestasis of pregnancy

69723 Tyrosinemia type 3

69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

69736 Bilateral acute depigmentation of the iris

69739 Athabaskan brainstem dysgenesis syndrome

69744 Circumscribed palmoplantar hypokeratosis

69745 Warty dyskeratoma

699 Pearson syndrome

70 Proximal spinal muscular atrophy

700 Alopecia totalis

701 Alopecia universalis

702 Pelizaeus-Merzbacher disease

703 Bullous pemphigoid

704 Pemphigus vulgaris

70470 Hyperlipoproteinemia type 5

70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

70474 Leigh syndrome with cardiomyopathy

70475 Radiation proctitis

70476 Vernal keratoconjunctivitis

70567 Cholangiocarcinoma

70568 Post-transplant lymphoproliferative disease

70573 Small cell lung cancer

70578 Adult acute respiratory distress syndrome

70587 Infant acute respiratory distress syndrome

70588 Meconium aspiration syndrome

70590 Infantile apnea

70591 Chronic thromboembolic pulmonary hypertension

70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency

70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency

70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

70596 Congenital Epstein-Barr virus infection

707 Plague

71 Chylomicron retention disease

712 Hemolytic anemia due to glucophosphate isomerase deficiency

71211 Neuromyelitis optica

71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

71213 Retinal capillary malformation

71272 Sandifer syndrome

71273 Renal nutcracker syndrome

71274 Disseminated peritoneal leiomyomatosis

71275 Rh deficiency syndrome

71276 Silent sinus syndrome

71277 Encephalopathy due to GLUT1 deficiency

71278 Congenital brain dysgenesis due to glutamine synthetase deficiency

71279 CANOMAD syndrome

71290 Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome

713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

714 Hemolytic anemia due to diphosphoglycerate mutase deficiency

71493 Familial thrombocytosis

715 Glycogen storage disease due to muscle phosphorylase kinase deficiency

71505 Cancer-associated retinopathy

71517 Rapid-onset dystonia-parkinsonism

71518 Benign paroxysmal torticollis of infancy

71528 Obesity due to prohormone convertase I deficiency

716 Phenylketonuria

720 Pili bifurcati

721 Gray platelet syndrome

722 Hypoplasminogenemia

723 Pneumocystosis

724 Idiopathic acute eosinophilic pneumonia

725 Continuous spikes and waves during sleep

726 Alpers-Huttenlocher syndrome

727 Microscopic polyangiitis

728 Relapsing polychondritis

729 Polycythemia vera

730 Autosomal dominant polycystic kidney disease

731 Autosomal recessive polycystic kidney disease

732 Polymyositis

73224 Tubular renal disease-cardiomyopathy syndrome

73229 HANAC syndrome

73230 Ossification anomalies-psychomotor developmental delay syndrome

73247 Eosinophilic esophagitis

73256 Central neurocytoma

73260 Paracoccidioidomycosis

73263 Zygomycosis

73267 Non-24-hour sleep-wake syndrome

73271 Bleeding diathesis due to a collagen receptor defect

73272 Growth delay due to insulin-like growth factor type 1 deficiency

73273 Growth delay due to insulin-like growth factor I resistance

73274 Acquired hemophilia

733 Familial adenomatous polyposis

734 Alpha delta granule deficiency

73423 Acute ackee fruit intoxication

735 Porokeratosis of Mibelli

737 Porokeratosis plantaris palmaris et disseminata

739 Prader-Willi syndrome

74 Angiostrongyliasis

740 Hutchinson-Gilford progeria syndrome

742 Prolidase deficiency

743 Severe hereditary thrombophilia due to congenital protein S deficiency

745 Severe hereditary thrombophilia due to congenital protein C deficiency

746 Mitochondrial trifunctional protein deficiency

747 Autoimmune pulmonary alveolar proteinosis

749 Congenital prekallikrein deficiency

750 Pseudoachondroplasia

752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

75249 Familial isolated restrictive cardiomyopathy

753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome

75326 Retinal arterial tortuosity

75327 North Carolina macular dystrophy

75373 Progressive bifocal chorioretinal atrophy

75374 Bradyopsia

75376 Familial drusen

75377 Central areolar choroidal dystrophy

75378 Oligocone trichromacy

75381 Cystoid macular dystrophy

75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

75392 Ehlers-Danlos syndrome, periodontitis type

75496 Ehlers-Danlos syndrome, progeroid type

75497 X-linked Ehlers-Danlos syndrome

755 Leydig cell hypoplasia

75501 Ehlers-Danlos syndrome, fibronectinemic type

75563 X-linked sideroblastic anemia

75564 Acquired idiopathic sideroblastic anemia

75565 Tropical endomyocardial fibrosis

75566 Loeffler endocarditis

756 Pseudohypoaldosteronism type 1

757 Pseudohypoaldosteronism type 2

758 Pseudoxanthoma elasticum

75840 Congenital muscular dystrophy, Ullrich type

75858 MORM syndrome

759 Central precocious puberty

76 Strongyloidiasis

760 Purine nucleoside phosphorylase deficiency

761 Immunoglobulin A vasculitis

763 Pycnodysostosis

764 Pyomyositis

765 Pyruvate dehydrogenase deficiency

766 Hemolytic anemia due to red cell pyruvate kinase deficiency

767 Polyarteritis nodosa

768 Familial long QT syndrome

770 Rabies

772 Infantile Refsum disease

77243 Lipedema

77292 Niemann-Pick disease type A

77293 Niemann-Pick disease type B

77295 Odontoleukodystrophy

77297 Majeed syndrome

773 Refsum disease

774 Hereditary hemorrhagic telangiectasia

778 Rett syndrome

779 Reynolds syndrome

78 Ankylostomiasis

780 Rhabdomyosarcoma

781 Q fever

785 Estrogen resistance syndrome

786 Glucocorticoid resistance

79 Congenital alpha2-antiplasmin deficiency

790 Retinoblastoma

79078 IgG4-related dacryoadenitis and sialadenitis

79083 PPARG-related familial partial lipodystrophy

79084 Familial partial lipodystrophy, Köbberling type

79085 AKT2-related familial partial lipodystrophy

79086 Acquired generalized lipodystrophy

79087 Partial acquired lipodystrophy

79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

79095 Congenital bile acid synthesis defect type 4

79096 Pyridoxal phosphate-responsive seizures

79097 Folinic acid-responsive seizures

79098 Sympathetic ophthalmia

79099 Interstitial granulomatous dermatitis with arthritis

791 Retinitis pigmentosa

79100 Atrophoderma vermiculata

79101 Hyperprolinemia type 2

79102 Thyrotoxic periodic paralysis

79105 Myxofibrosarcoma

79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

79124 Hepatic veno-occlusive disease-immunodeficiency syndrome

79126 Acute interstitial pneumonia

79127 Respiratory bronchiolitis-interstitial lung disease syndrome

79128 Lymphoid interstitial pneumonia

79134 DEND syndrome

79135 Episodic ataxia type 3

79136 Episodic ataxia type 4

79137 Generalized epilepsy-paroxysmal dyskinesia syndrome

79138 Bickerstaff brainstem encephalitis

79139 Japanese encephalitis

79140 Cutaneous neuroendocrine carcinoma

79141 Hereditary painful callosities

79143 Isolated congenital anonychia

79144 Isolated congenital onychodysplasia

79145 Dowling-Degos disease

79146 Familial progressive hyperpigmentation

79147 Familial reactive perforating collagenosis

79148 Elastosis perforans serpiginosa

79149 Dermochondrocorneal dystrophy

79150 Linear and whorled nevoid hypermelanosis

79151 Acrokeratosis verruciformis of Hopf

79152 Disseminated superficial actinic porokeratosis

79153 Autosomal dominant nail dysplasia

79154 2-aminoadipic 2-oxoadipic aciduria

79155 Encephalopathy due to hydroxykynureninuria

79156 Seizures-intellectual disability due to hydroxylysinuria syndrome

79157 2-methylbutyryl-CoA dehydrogenase deficiency

79159 Isobutyryl-CoA dehydrogenase deficiency

79230 Hemochromatosis type 2

79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency

79237 Galactokinase deficiency

79238 Galactose epimerase deficiency

79239 Classic galactosemia

79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

79241 Biotinidase deficiency

79242 Holocarboxylase synthetase deficiency

79262 Adult neuronal ceroid lipofuscinosis

79263 Infantile neuronal ceroid lipofuscinosis

79264 Juvenile neuronal ceroid lipofuscinosis

79273 Hereditary coproporphyria

79276 Acute intermittent porphyria

79277 Congenital erythropoietic porphyria

79278 Autosomal erythropoietic protoporphyria

79299 Hyperinsulinism due to glucokinase deficiency

793 SAPHO syndrome

79301 Congenital bile acid synthesis defect type 1

79302 Congenital bile acid synthesis defect type 3

79303 Congenital bile acid synthesis defect type 2

79314 L-2-hydroxyglutaric aciduria

79315 D-2-hydroxyglutaric aciduria

79318 PMM2-CDG

79319 MPI-CDG

79320 ALG6-CDG

79321 ALG3-CDG

79322 DPM1-CDG

79323 MPDU1-CDG

79324 ALG12-CDG

79325 ALG8-CDG

79326 ALG2-CDG

79327 ALG1-CDG

79328 ALG9-CDG

79329 MGAT2-CDG

79330 MOGS-CDG

79332 B4GALT1-CDG

79333 COG7-CDG

79350 3-phosphoserine phosphatase deficiency

79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

79394 Congenital non-bullous ichthyosiform erythroderma

79395 Keratoderma hereditarium mutilans with ichthyosis

79396 Epidermolysis bullosa simplex, Dowling-Meara type

79397 Epidermolysis bullosa simplex with mottled pigmentation

79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

79400 Localized epidermolysis bullosa simplex

79401 Epidermolysis bullosa simplex, Ogna type

79403 Junctional epidermolysis bullosa-pyloric atresia syndrome

79404 Junctional epidermolysis bullosa, Herlitz type

79405 Junctional epidermolysis bullosa inversa

79406 Late-onset junctional epidermolysis bullosa

79408 Severe generalized recessive dystrophic epidermolysis bullosa

79409 Recessive dystrophic epidermolysis bullosa inversa

79410 Pretibial dystrophic epidermolysis bullosa

79411 Transient bullous dermolysis of the newborn

79414 Woolly hair nevus

79430 Hermansky-Pudlak syndrome

79432 Oculocutaneous albinism type 2

79433 Oculocutaneous albinism type 3

79435 Oculocutaneous albinism type 4

79443 Pseudohypoparathyroidism type 1A

79444 Pseudohypoparathyroidism type 1C

79445 Pseudopseudohypoparathyroidism

79452 Milroy disease

79455 Cutaneous mastocytoma

79456 Diffuse cutaneous mastocytosis

79457 Maculopapular cutaneous mastocytosis

79473 Porphyria variegata

79474 Atypical Werner syndrome

79480 Pemphigus erythematosus

79481 Pemphigus foliaceus

79492 Pili gemini

79493 Brooke-Spiegler syndrome

79501 Punctate palmoplantar keratoderma type 1

79502 Punctate palmoplantar keratoderma type 2

79503 Ichthyosis hystrix of Curth-Macklin

79504 Ichthyosis hystrix gravior

79506 Cholesterol-ester transfer protein deficiency

79507 Hypotonia-failure to thrive-microcephaly syndrome

796 Sandhoff disease

79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency

79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

797 Sarcoidosis

799 Schizencephaly

800 Schwartz-Jampel syndrome

803 Amyotrophic lateral sclerosis

805 Tuberous sclerosis complex

806 Scott syndrome

809 Mixed connective tissue disease

81 Antisynthetase syndrome

810 Shigellosis

811 Shwachman-Diamond syndrome

812 Sialidosis type 1

813 Silver-Russell syndrome

816 Sjögren-Larsson syndrome

82 Hereditary thrombophilia due to congenital antithrombin deficiency

820 Sneddon syndrome

82004 Ehlers-Danlos syndrome with periventricular heterotopia

821 Sotos syndrome

822 Hereditary spherocytosis

824 Primary myelofibrosis

826 Sporotrichosis

827 Stargardt disease

828 Stickler syndrome

829 Adult-onset Still disease

831 Congenital cervical spinal stenosis

832 Succinyl-CoA:3-ketoacid CoA transferase deficiency

833 Encephalopathy due to sulfite oxidase deficiency

83311 Rocky Mountain spotted fever

83312 Rickettsialpox

83313 Boutonneuse fever

83314 Epidemic typhus

83315 Murine typhus

83316 Pseudotyphus of California

83317 Scrub typhus

834 Free sialic acid storage disease

83450 Regional odontodysplasia

83451 Florid cemento-osseous dysplasia

83452 Complex regional pain syndrome

83453 Vulvovaginal gingival syndrome

83465 Narcolepsy without cataplexy

83467 Morvan syndrome

83468 Solitary bone cyst

83469 Desmoplastic small round cell tumor

83471 Thymic aplasia

83476 West-Nile encephalitis

83482 Mycoplasma encephalitis

83483 La Crosse encephalitis

83484 St. Louis encephalitis

83593 Western equine encephalitis

83594 Eastern equine encephalitis

83595 Colorado tick fever

83597 Acute disseminated encephalomyelitis

83600 Encephalitis lethargica

83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis

83616 Rubella panencephalitis

83620 Enteric anendocrinosis

83629 Leukoencephalopathy-metaphyseal chondrodysplasia syndrome

83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

83642 Microcytic anemia with liver iron overload

83648 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

838 Susac syndrome

839 Congenital nephrotic syndrome, Finnish type

840 Syringocystadenoma papilliferum

84064 Syndromic diarrhea

84065 Idiopathic malabsorption due to bile acid synthesis defects

84081 Senior-Boichis syndrome

84085 Hinman syndrome

84087 Collagen type III glomerulopathy

84090 Fibronectin glomerulopathy

84093 Hereditary thermosensitive neuropathy

841 Sebocystomatosis

84132 Desmin-related myopathy with Mallory body-like inclusions

84142 Isaac syndrome

842 Testicular seminomatous germ cell tumor

844 Lown-Ganong-Levine syndrome

845 Tay-Sachs disease

846 Alpha-thalassemia

847 Alpha-thalassemia-X-linked intellectual disability syndrome

848 Beta-thalassemia

849 Glanzmann thrombasthenia

851 Paris-Trousseau thrombocytopenia

85110 Familial encephalopathy with neuroserpin inclusion bodies

85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

85128 Bothnia retinal dystrophy

85136 Cystic leukoencephalopathy without megalencephaly

85138 Addison disease

85146 Neurogenic scapuloperoneal syndrome, Kaeser type

85162 Facial onset sensory and motor neuronopathy

85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome

85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type

85182 Diaphyseal medullary stenosis-bone malignancy syndrome

85195 Familial expansile osteolysis

85197 Genochondromatosis type 1

85292 X-linked spinocerebellar ataxia type 4

85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome

853 Fetal and neonatal alloimmune thrombocytopenia

85323 X-linked intellectual disability, Seemanova type

85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome

85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

85332 X-linked intellectual disability-retinitis pigmentosa syndrome

85334 X-linked neurodegenerative syndrome, Bertini type

85336 X-linked neurodegenerative syndrome, Hamel type

85338 X-linked intellectual disability-ataxia-apraxia syndrome

85408 Rheumatoid factor-negative juvenile idiopathic arthritis

85410 Oligoarticular juvenile idiopathic arthritis

85414 Systemic-onset juvenile idiopathic arthritis

85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

85436 Psoriasis-related juvenile idiopathic arthritis

85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome

85443 AL amyloidosis

85445 AA amyloidosis

85446 Wild type ABeta2M amyloidosis

85447 ATTRV30M amyloidosis

85448 AGel amyloidosis

85450 Hereditary amyloidosis with primary renal involement

85451 ATTRV122I amyloidosis

85453 X-linked reticulate pigmentary disorder

85458 Hereditary cerebral hemorrhage with amyloidosis

858 Congenital toxoplasmosis

859 Transcobalamin deficiency

86 Familial abdominal aortic aneurysm

863 Trichinellosis

86309 DPAGT1-CDG

864 Trichofolliculoma

86788 X-linked severe congenital neutropenia

86797 Atypical lichen myxedematosus

868 Triose phosphate-isomerase deficiency

86812 Autosomal recessive limb-girdle muscular dystrophy type 2K

86813 Helicoid peripapillary chorioretinal degeneration

86814 Benign adult familial myoclonic epilepsy

86815 Aplasia of lacrimal and salivary glands

86816 Congenital analbuminemia

86817 Hemolytic anemia due to adenylate kinase deficiency

86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

86819 Atrichia with papular lesions

86820 Familial avascular necrosis of femoral head

86829 Chronic neutrophilic leukemia

86830 Chronic myeloproliferative disease, unclassifiable

86834 Juvenile myelomonocytic leukemia

86839 Refractory anemia with excess blasts

86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

86843 Acute panmyelosis with myelofibrosis

86845 Acute myeloid leukaemia with myelodysplasia-related features

86849 Acute basophilic leukemia

86850 Myeloid sarcoma

86852 B-cell prolymphocytic leukemia

86854 Splenic marginal zone lymphoma

86855 Plasmacytoma

86861 Non-amyloid monoclonal immunoglobulin deposition disease

86864 Heavy chain disease

86867 Nodal marginal zone B-cell lymphoma

86869 Lymphomatoid granulomatosis

86870 CD4+/CD56+ hematodermic neoplasm

86871 T-cell prolymphocytic leukemia

86872 T-cell large granular lymphocyte leukemia

86873 Aggressive NK-cell leukemia

86875 Adult T-cell leukemia/lymphoma

86879 Extranodal nasal NK/T cell lymphoma

86880 Enteropathy-associated T-cell lymphoma

86882 Hepatosplenic T-cell lymphoma

86884 Subcutaneous panniculitis-like T-cell lymphoma

86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified

86886 Angioimmunoblastic T-cell lymphoma

86893 Nodular lymphocyte predominant Hodgkin lymphoma

86896 Histiocytic sarcoma

86897 Langerhans cell sarcoma

869 Triple A syndrome

86900 Interdigitating dendritic cell sarcoma

86902 Follicular dendritic cell sarcoma

86903 Dendritic cell sarcoma not otherwise specified

86904 Methotrexate-associated lymphoproliferative disorders

86906 Hypothalamic hamartomas with gelastic seizures

86908 Idiopathic hemiconvulsion-hemiplegia syndrome

86909 Myoclonic epilepsy of infancy

86911 Epilepsy with myoclonic absences

86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome

86919 Keratosis palmaris et plantaris-clinodactyly syndrome

86920 Dermatopathia pigmentosa reticularis

86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

871 Familial progressive cardiac conduction defect

873 Desmoid tumor

874 Primary adult heart tumor

875 Primary pediatric heart tumor

87503 Mal de Meleda

876 Yolk sac tumor

87876 Sialidosis type 2

87884 Non-syndromic genetic deafness

879 Tungiasis

88 Idiopathic aplastic anemia

882 Tyrosinemia type 1

883 Extragonadal teratoma

886 Usher syndrome

88618 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

88619 Familial acute necrotizing encephalopathy

88620 Isolated congenital anosmia

88621 Ichthyosis-prematurity syndrome

88628 Posterior column ataxia-retinitis pigmentosa syndrome

88629 Tritanopia

88633 Superior limbic keratoconjunctivitis

88635 Myopathy due to calsequestrin and SERCA1 protein overload

88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

88642 Channelopathy-associated congenital insensitivity to pain

88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

88644 Autosomal recessive ataxia, Beauce type

88659 Autosomal dominant progressive nephropathy with hypertension

88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

88661 Amelogenesis imperfecta

88673 Hepatocellular carcinoma

889 Cutaneous leukocytoclastic angiitis

88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

890 Hepatic veno-occlusive disease

891 Familial exudative vitreoretinopathy

892 Von Hippel-Lindau disease

897 Waardenburg-Shah syndrome

898 Wagner disease

89838 KRT14-related epidermolysis bullosa simplex

89839 Epidermolysis bullosa simplex superficialis

89840 Junctional epidermolysis bullosa, non-Herlitz type

89841 Centripetalis recessive dystrophic epidermolysis bullosa

89842 Recessive dystrophic epidermolysis bullosa-generalized other

89843 Dystrophic epidermolysis bullosa pruriginosa

899 Walker-Warburg syndrome

89936 X-linked hypophosphatemia

89937 Autosomal dominant hypophosphatemic rickets

90 Argininemia

900 Granulomatosis with polyangiitis

90000 Erythema elevatum diutinum

90001 X-linked cone dysfunction syndrome with myopia

90002 Undifferentiated connective tissue syndrome

90003 IgG4-related hepatopathy

90020 Amyotrophic lateral sclerosis-parkinsonism-dementia complex

90021 Radiation myelitis

90023 Primary immunodeficiency syndrome due to p14 deficiency

90026 Primary erythermalgia

90030 Hemolytic anemia due to glutathione reductase deficiency

90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency

90033 Autoimmune hemolytic anemia, warm type

90035 Paroxysmal cold hemoglobinuria

90036 Mixed-type autoimmune hemolytic anemia

90037 Drug-induced autoimmune hemolytic anemia

90038 Typical hemolytic-uremic syndrome

90039 Hemoglobin D disease

90041 Gaisböck syndrome

90042 Primary familial polycythemia

90044 Familial pseudohyperkalemia

90045 Hereditary folate malabsorption

90050 Retinopathy of prematurity

90068 Cocaine intoxication

90069 Systemic monochloroacetate poisoning

901 Wells syndrome

90117 Hereditary motor and sensory neuropathy, Okinawa type

90118 Severe early-onset axonal neuropathy due to MFN2 deficiency

90119 Hereditary motor and sensory neuropathy with acrodystrophy

90120 Hereditary motor and sensory neuropathy type 6

90156 Centrifugal lipodystrophy

90157 Drug-induced localized lipodystrophy

90158 Idiopathic localized lipodystrophy

90159 Panniculitis and localized lipodystrophy

90160 Pressure-induced localized lipoatrophy

90186 Meige disease

902 Werner syndrome

90280 Chilblain lupus

90281 Discoid lupus erythematosus

90282 Hypertrophic or verrucous lupus erythematosus

90283 Lupus erythematosus tumidus

90285 Lupus erythematosus panniculitis

90289 Localized scleroderma

90291 Systemic sclerosis

903 Von Willebrand disease

90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

90340 Blau syndrome

90342 Xeroderma pigmentosum variant

90348 Autosomal dominant cutis laxa

90349 Autosomal recessive cutis laxa type 1

90354 Brittle cornea syndrome

90362 Primary intestinal lymphangiectasia

90363 Secondary intestinal lymphangiectasia

90368 Hypotrichosis simplex of the scalp

90393 Nodular lichen myxedematosus

90394 Discrete papular lichen myxedematosus

90395 Papular mucinosis of infancy

90396 Acral persistent papular mucinosis

90397 Self-healing papular mucinosis

905 Wilson disease

906 Wiskott-Aldrich syndrome

90658 Charcot-Marie-Tooth disease type 1E

90673 Hypothyroidism due to TSH receptor mutations

90674 Isolated thyroid-stimulating hormone deficiency

90695 Panhypopituitarism

90790 Congenital lipoid adrenal hyperplasia due to STAR deficency

90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency

90797 Partial androgen insensitivity syndrome

909 Cerebrotendinous xanthomatosis

91 Aromatase deficiency

910 Xeroderma pigmentosum

911 Combined immunodeficiency due to ZAP70 deficiency

91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome

91131 DK1-CDG

91132 Ichthyosis-hypotrichosis syndrome

91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome

91138 Cryoglobulinemic vasculitis

91139 Simple cryoglobulinemia

91140 Unspecified juvenile idiopathic arthritis

912 Zellweger syndrome

913 Zollinger-Ellison syndrome

91347 TSH-secreting pituitary adenoma

91348 Functioning gonadotropic adenoma

91349 Non-functioning pituitary adenoma

91350 Pituitary deficiency due to Rathke's cleft cysts

91351 Pituitary dermoid and epidermoid cysts

91354 Pituitary deficiency due to empty sella turcica syndrome

91359 Chronic pneumonitis of infancy

91364 Non-specific interstitial pneumonia

91378 Hereditary angioedema

91385 Acquired angioedema

91387 Familial thoracic aortic aneurysm and aortic dissection

91411 Congenital ptosis

91412 Marcus-Gunn syndrome

91413 Congenital Horner syndrome

91414 Pilomatrixoma

91416 Isolated congenital alacrima

91481 Ring dermoid of cornea

91492 Early-onset non-syndromic cataract

91495 Persistent hyperplastic primary vitreous

91496 Snowflake vitreoretinal degeneration

91498 Familial congenital palsy of trochlear nerve

91500 Tubulointerstitial nephritis and uveitis syndrome

91546 Lyme disease

91547 Relapsing fever

92050 Congenital tufting enteropathy

922 Familial nasal acilia

926 Acatalasemia

927 Hyperammonemia due to N-acetylglutamate synthase deficiency

93 Aspartylglucosaminuria

930 Idiopathic achalasia

93111 Renal cysts and diabetes syndrome

93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

93126 Pauci-immune glomerulonephritis

93160 Hypocalcemic vitamin D-resistant rickets

932 Achondrogenesis

93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type

93283 Spondyloepiphyseal dysplasia, Kimberley type

93284 Spondyloepiphyseal dysplasia tarda

93292 Adenoma of the pancreas

93307 Multiple epiphyseal dysplasia type 4

93308 Multiple epiphyseal dysplasia type 1

93311 Multiple epiphyseal dysplasia type 5

93314 Spondylometaphyseal dysplasia, Kozlowski type

93315 Spondylometaphyseal dysplasia, 'corner fracture' type

93316 Spondylometaphyseal dysplasia, Schmidt type

93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type

93347 Anauxetic dysplasia

93349 X-linked spondyloepimetaphyseal dysplasia

93351 Spondyloepimetaphyseal dysplasia, Irapa type

93352 Spondyloepimetaphyseal dysplasia, Shohat type

93356 Spondyloepimetaphyseal dysplasia, Missouri type

93357 SPONASTRIME dysplasia

93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

93359 Spondyloepimetaphyseal dysplasia with joint laxity

93360 Spondyloepimetaphyseal dysplasia with multiple dislocations

93398 Genochondromatosis type 2

935 Short-limb skeletal dysplasia with severe combined immunodeficiency

93552 Pediatric systemic lupus erythematosus

93568 Juvenile polymyositis

93569 Polymyalgia rheumatica

93606 Nephrogenic syndrome of inappropriate antidiuresis

93672 Juvenile dermatomyositis

939 3-hydroxyisobutyric aciduria

93921 Neurofibromatosis type 3

93932 FG syndrome type 1

93951 X-linked dominant intellectual disability-epilepsy syndrome

93952 X-linked intellectual disability, Hedera type

93958 Oromandibular dystonia

93964 Blepharospasm-oromandibular dystonia syndrome

94068 Spondyloepiphyseal dysplasia congenita

94080 Non-functioning paraganglioma

94086 Blue diaper syndrome

94087 Cytophagic histiocytic panniculitis

94089 Pseudohypoparathyroidism type 1B

94090 Pseudohypoparathyroidism type 2

94093 Neuroleptic malignant syndrome

941 D-glyceric aciduria

94122 Cerebellar ataxia, Cayman type

94124 Spinocerebellar ataxia with axonal neuropathy type 1

94125 Recessive mitochondrial ataxia syndrome

94147 Spinocerebellar ataxia type 7

943 Malonic aciduria

95 Friedreich ataxia

95159 Hepatoerythropoietic porphyria

95232 Lissencephaly due to LIS1 mutation

95427 Secondary short bowel syndrome

95428 COG8-CDG

95429 Angioma serpiginosum

95431 Twin to twin transfusion syndrome

95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

95434 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

95449 Congenital aortic valve insufficiency

95455 Toxic epidermal necrolysis

95494 Combined pituitary hormone deficiencies, genetic forms

95512 Adenohypophysitis

95513 Panhypophysitis

95613 Pituitary apoplexy

95619 Iatrogenic or traumatic pituitary deficiency

95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone

95702 Cytomegalic congenital adrenal hypoplasia

95715 Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

95716 Familial thyroid dyshormonogenesis

95717 Idiopathic congenital hypothyroidism

96 Ataxia with vitamin E deficiency

96253 Cushing disease

963 Acromegaly

96369 Early-onset schizophrenia

97 Familial paroxysmal ataxia

970 Hereditary sensory and autonomic neuropathy type 2

972 Hereditary continuous muscle fiber activity

97230 Solar urticaria

97231 Ligneous conjunctivitis

97232 Fingerprint body myopathy

97234 Glycogen storage disease due to phosphoglycerate mutase deficiency

97238 Rippling muscle disease

97239 Reducing body myopathy

97240 Zebra body myopathy

97244 Rigid spine syndrome

97261 GRFoma

97278 PPoma

97279 Insulinoma

97280 Glucagonoma

97282 VIPoma

97283 Somatostatinoma

97285 Thyroid lymphoma

97286 Carney-Stratakis syndrome

97287 Bronchial endocrine tumor

97289 Thymic neuroendocrine tumor

97290 Familial papillary thyroid carcinoma with renal papillary neoplasia

97330 Thoracic outlet syndrome

97332 Kienbock disease

97335 Osgood-Schlatter disease

97336 Panner disease

97337 Sinding-Larsen-Johansson disease

97338 Melanoma of soft tissue

97341 Persistent placoid maculopathy

97349 Postencephalitic parkinsonism

97352 Pellagra

97353 Dementia pugilistica

97355 Parkinsonism with dementia of Guadeloupe

97560 Idiopathic membranous glomerulonephritis

97566 Non-amyloid fibrillary glomerulopathy

97567 Immunotactoid glomerulopathy

97598 Congenital renal artery stenosis

976 Adenine phosphoribosyltransferase deficiency

977 Adrenomyodystrophy

97927 Peripheral resistance to thyroid hormones

98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay

98345 Rare idiopathic male infertility

98434 Hereditary combined deficiency of vitamin K-dependent clotting factors

98593 Neurogenic palpebral tumor

98619 Rare isolated myopia

98673 Autosomal dominant optic atrophy, classic form

98676 Autosomal recessive isolated optic atrophy

98686 Congenital trochlear nerve palsy

98755 Spinocerebellar ataxia type 1

98756 Spinocerebellar ataxia type 2

98757 Spinocerebellar ataxia type 3

98758 Spinocerebellar ataxia type 6

98759 Spinocerebellar ataxia type 17

98760 Spinocerebellar ataxia type 8

98761 Spinocerebellar ataxia type 10

98762 Spinocerebellar ataxia type 12

98763 Spinocerebellar ataxia type 14

98764 Spinocerebellar ataxia type 27

98765 Spinocerebellar ataxia type 4

98766 Spinocerebellar ataxia type 5

98767 Spinocerebellar ataxia type 11

98768 Spinocerebellar ataxia type 13

98769 Spinocerebellar ataxia type 15/16

98771 Spinocerebellar ataxia type 18

98772 Spinocerebellar ataxia type 19/22

98773 Spinocerebellar ataxia type 21

98784 Autosomal dominant nocturnal frontal lobe epilepsy

98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

98805 Primary dystonia, DYT4 type

98806 Primary dystonia, DYT6 type

98807 Primary dystonia, DYT13 type

98808 Autosomal dominant dopa-responsive dystonia

98809 Paroxysmal kinesigenic dyskinesia

98810 Paroxysmal non-kinesigenic dyskinesia

98811 Paroxysmal exertion-induced dyskinesia

98818 Landau-Kleffner syndrome

98819 Familial temporal lobe epilepsy

98820 Familial focal epilepsy with variable foci

98823 Chronic myelomonocytic leukemia

98824 Atypical chronic myeloid leukemia

98825 Unclassified myelodysplastic/myeloproliferative disease

98826 Refractory anemia

98827 Unclassified myelodysplastic syndrome

98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

98831 Acute myeloid leukemia with 11q23 abnormalities

98832 Acute myeloid leukemia with minimal differentiation

98833 Acute myeloblastic leukemia without maturation

98834 Acute myeloblastic leukemia with maturation

98835 Acute undifferentiated leukemia

98836 Bilineal acute leukemia

98837 Acute biphenotypic leukemia

98838 Primary mediastinal large B-cell lymphoma

98839 Intravascular large B-cell lymphoma

98841 Anaplastic large cell lymphoma

98842 Lymphomatoid papulosis

98848 Indolent systemic mastocytosis

98849 Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

98850 Aggressive systemic mastocytosis

98852 Desquamative interstitial pneumonia

98856 Charcot-Marie-Tooth disease type 2B1

98868 Southeast Asian ovalocytosis

98869 Congenital dyserythropoietic anemia type I

98870 Congenital dyserythropoietic anemia type III

98871 Transient erythroblastopenia of childhood

98872 Adult pure red cell aplasia

98873 Congenital dyserythropoietic anemia type II

98878 Hemophilia A

98879 Hemophilia B

98890 Early-onset X-linked optic atrophy

98893 Congenital muscular dystrophy type 1B

98895 Becker muscular dystrophy

98896 Duchenne muscular dystrophy

98897 Oculopharyngodistal myopathy

98902 Amish nemaline myopathy

98904 Congenital myopathy with excess of thin filaments

98907 Dorfman-Chanarin disease

98908 Neutral lipid storage myopathy

98909 Desminopathy

98911 Distal myotilinopathy

98912 Late-onset distal myopathy, Markesbery-Griggs type

98916 Acute inflammatory demyelinating polyradiculoneuropathy

98917 Acute motor and sensory axonal neuropathy

98918 Acute motor axonal neuropathy

98919 Miller-Fisher syndrome

98920 Spinal muscular atrophy with respiratory distress type 1

98934 Huntington disease-like 2

98954 Meesmann corneal dystrophy

98955 Lisch epithelial corneal dystrophy

98956 Epithelial basement membrane dystrophy

98957 Gelatinous drop-like corneal dystrophy

98958 Honey-droplet corneal dystrophy

98959 Subepithelial mucinous corneal dystrophy

98960 Thiel-Behnke corneal dystrophy

98961 Reis-Bücklers corneal dystrophy

98962 Granular corneal dystrophy type I

98963 Granular corneal dystrophy type II

98964 Lattice corneal dystrophy type I

98967 Schnyder corneal dystrophy

98969 Macular corneal dystrophy

98970 Fleck corneal dystrophy

98971 Posterior amorphous corneal dystrophy

98972 Central cloudy dystrophy of François

98973 Posterior polymorphous corneal dystrophy

98974 Fuchs endothelial corneal dystrophy

98975 Congenital hereditary endothelial dystrophy type I

98976 Congenital glaucoma

98977 Juvenile glaucoma

99000 Adult-onset foveomacular vitelliform dystrophy

99001 Butterfly-shaped pigment dystrophy

99002 Reticular dystrophy of the retinal pigment epithelium

99003 Multifocal pattern dystrophy simulating fundus flavimaculatus

99004 Fundus pulverulentus

99013 Spastic paraplegia type 7

99014 X-linked Charcot-Marie-Tooth disease type 5

99015 Spastic paraplegia type 2

99022 Niemann-Pick disease type E

99027 Adult-onset autosomal dominant leukodystrophy

99135 6-phosphogluconate dehydrogenase deficiency

99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

99139 Unstable hemoglobin disease

99147 Acquired von Willebrand syndrome

99429 Complete androgen insensitivity syndrome

99642 Spondyloepimetaphyseal dysplasia, Handigodu type

99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

99647 Cheirospondyloenchondromatosis

99657 Primary dystonia, DYT2 type

99701 Mesial temporal lobe epilepsy with hippocampal sclerosis

99706 Progeria-associated arthropathy

99718 Leber plus disease

99725 Pituitary gigantism

99734 Myotonia fluctuans

99735 Myotonia permanens

99736 Acetazolamide-responsive myotonia

99745 Typhoid

99749 Kostmann syndrome

99792 Dentin dysplasia-sclerotic bones syndrome

99807 PEHO-like syndrome

99812 LIG4 syndrome

99819 Familial gestational hyperthyroidism

99824 Lassa fever

99825 Nipah virus disease

99826 Marburg hemorrhagic fever

99827 Crimean-Congo hemorrhagic fever

99828 Dengue fever

99829 Yellow fever

99832 Resistance to thyrotropin-releasing hormone syndrome

99845 Genetic recurrent myoglobinuria

99846 Autosomal dominant myoglobinuria

99849 Glycogen storage disease due to muscle beta-enolase deficiency

99852 Ravine syndrome

99857 Secondary syringomyelia

99860 Precursor B-cell acute lymphoblastic leukemia

99861 Precursor T-cell acute lymphoblastic leukemia

99865 Spermatocytic seminoma

99867 Thymoma

99868 Thymic carcinoma

99869 Thymic neuroendocrine carcinoma

99870 Letterer-Siwe disease

99871 Eosinophilic granuloma

99872 Hashimoto-Pritzker syndrome

99873 Hand-Schüller-Christian disease

99874 Adult pulmonary Langerhans cell histiocytosis

99877 Familial parathyroid adenoma

99878 Primary parathyroid hyperplasia

99879 Familial isolated hyperparathyroidism

99880 Hyperparathyroidism-jaw tumor syndrome

99885 Permanent neonatal diabetes mellitus

99886 Transient neonatal diabetes mellitus

99889 Cushing syndrome due to ectopic ACTH secretion

99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

99900 Long chain acyl-CoA dehydrogenase deficiency

99901 Acyl-CoA dehydrogenase 9 deficiency

99906 Farmer's lung disease

99907 House allergic alveolitis

99908 Pigeon-breeder lung disease

99912 Malignant dysgerminomatous germ cell tumor of the ovary

99914 Gynandroblastoma

99915 Maligant granulosa cell tumor of the ovary

99916 Malignant Sertoli-Leydig cell tumor of the ovary

99917 Theca steroid-producing cell malignant tumor of ovary, not further specified

99922 Ocular pemphigoid

99925 Invasive mole

99926 Gestational choriocarcinoma

99927 Hydatidiform mole

99928 Placental site trophoblastic tumor

99930 Secondary pulmonary hemosiderosis

99931 Idiopathic pulmonary hemosiderosis

99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B

99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C

99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D

99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E

99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F

99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G

99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I

99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J

99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K

99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L

99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1

99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2

99948 Charcot-Marie-Tooth disease type 4A

99949 Charcot-Marie-Tooth disease type 4C

99950 Charcot-Marie-Tooth disease type 4D

99951 Charcot-Marie-Tooth disease type 4E

99952 Charcot-Marie-Tooth disease type 4F

99953 Charcot-Marie-Tooth disease type 4G

99954 Charcot-Marie-Tooth disease type 4H

99955 Charcot-Marie-Tooth disease type 4B1

99956 Charcot-Marie-Tooth disease type 4B2

99976 Adenocarcinoma of the esophagus

99977 Squamous cell carcinoma of esophagus

99978 Klatskin tumor