C001 phenome

|

377796 clinical subtype

definition

A subset of a disorder defined by a distinct clinical presentation.

|

100000 Reticular perineurioma

100001 Sclerosing perineurioma

100006 ABeta amyloidosis, Dutch type

100008 ACys amyloidosis

100019 Refractory anemia with excess blasts type 1

100020 Refractory anemia with excess blasts type 2

100021 Primary plasmacytoma of the bone

100022 Extramedullary soft tissue plasmacytoma

100024 Mu-heavy chain disease

100025 Alpha-heavy chain disease

100026 Gamma-heavy chain disease

100031 Hypoplastic amelogenesis imperfecta

100032 Hypocalcified amelogenesis imperfecta

100033 Hypomaturation amelogenesis imperfecta

100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

100055 Acquired angioedema type 2

100056 Acquired angioedema type 1

100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema

100067 Waterhouse-Friderichsen syndrome

100073 Neurogenic thoracic outlet syndrome

101016 Romano-Ward syndrome

101029 Sub-cortical nodular heterotopia

101030 Subependymal nodular heterotopia

101033 Peters anomaly-cataract syndrome

101041 Familial hypofibrinogenemia

101043 Aortic valve dysplasia

101070 Bilateral frontoparietal polymicrogyria

101071 Unilateral hemispheric polymicrogyria

101088 X-linked hyper-IgM syndrome

101089 Hyper-IgM syndrome type 2

101090 Hyper-IgM syndrome type 3

101091 Hyper-IgM syndrome type 4

101092 Hyper-IgM syndrome type 5

101104 Marin-Amat syndrome

101106 Non-secreting chemodectoma

1023 Congenital generalized hypertrichosis, Ambras type

13 6-pyruvoyl-tetrahydropterin synthase deficiency

137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa

137917 Choanal atresia, unilateral

137920 Choanal atresia, bilateral

139396 X-linked cerebral adrenoleukodystrophy

139399 Adrenomyeloneuropathy

139420 Secondary acute transverse myelitis

139423 Idiopathic acute transverse myelitis

141077 Epignathus

141107 Nasopharyngeal teratoma

141115 Nasal ganglioglioma

141118 Nasal encephalocele

1455 Autosomal dominant coarctation of aorta

1456 Atypical coarctation of aorta

1466 COFS syndrome

1497 X-linked complicated corpus callosum dysgenesis

1507 Autosomal recessive Robinow syndrome

157713 Congenital or early infantile CACH syndrome

157716 Late infantile CACH syndrome

157719 Juvenile or adult CACH syndrome

1578 Dehydratase deficiency

158766 Typical urticaria pigmentosa

158769 Plaque-form urticaria pigmentosa

158772 Nodular urticaria pigmentosa

158775 Smouldering systemic mastocytosis

158778 Isolated bone marrow mastocytosis

158793 Lymphoadenopathic mastocytosis with eosinophilia

163596 Hb Bart's hydrops fetalis

166078 Von Willebrand disease type 1

166081 Von Willebrand disease type 2 4

166084 Von Willebrand disease type 2A

166087 Von Willebrand disease type 2B

166090 Von Willebrand disease type 2M

166093 Von Willebrand disease type 2N

166096 Von Willebrand disease type 3

166260 Dentinogenesis imperfecta type 2

166265 Dentinogenesis imperfecta type 3

168583 Hereditary North American Indian childhood cirrhosis

169793 Severe hemophilia B

169796 Moderately severe hemophilia B

169799 Mild hemophilia B

169802 Severe hemophilia A

169805 Moderately severe hemophilia A

169808 Mild hemophilia A

171201 High anorectal malformation

171208 Intermediate anorectal malformation

171215 Low anorectal malformation

171709 Male infertility due to globozoospermia

171829 6q16 deletion syndrome

171871 Renal pseudohypoaldosteronism type 1

171876 Generalized pseudohypoaldosteronism type 1

177926 Symptomatic form of hemophilia A in female carriers

177929 Symptomatic form of hemophilia B in female carriers

178145 Moderate multiminicore disease with hand involvement

178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita

178478 Infant botulism

178481 Intestinal botulism 2

178487 Adult intestinal botulism

180106 Bicervical bicornuate uterus and blind hemivagina

180111 Bicervical bicornuate uterus with patent cervix and vagina

180157 Longitudinal vaginal septum

180160 Transverse vaginal septum

1807 Focal facial dermal dysplasia type III

183678 Hermansky-Pudlak syndrome with neutropenia

1848 Renal agenesis, bilateral

1860 Thanatophoric dysplasia type 1

189466 Familial isolated hypoparathyroidism due to impaired PTH secretion

1931 Frontal encephalocele

2028 Juvenile hyaline fibromatosis

206436 Infantile Krabbe disease

206443 Late-infantile/juvenile Krabbe disease

206448 Adult Krabbe disease

206583 Adult polyglucosan body disease

2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

208441 Bilateral parasagittal parieto-occipital polymicrogyria

208444 Bilateral frontal polymicrogyria

208447 Bilateral generalized polymicrogyria

209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

210159 Adult hepatocellular carcinoma

2102 GTP cyclohydrolase I deficiency

211 Familial cylindromatosis

216445 Prelingual non-syndromic genetic deafness 1

216452 Postlingual non-syndromic genetic deafness

216718 Isolated congenitally uncorrected transposition of the great arteries

216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation

216796 Osteogenesis imperfecta type 1

216804 Osteogenesis imperfecta type 2

216812 Osteogenesis imperfecta type 3

216820 Osteogenesis imperfecta type 4

216828 Osteogenesis imperfecta type 5

216866 Classic pantothenate kinase-associated neurodegeneration

216873 Atypical pantothenate kinase-associated neurodegeneration

2169 Methylcobalamin deficiency type cblE

216972 Niemann-Pick disease type C, severe perinatal form

216975 Niemann-Pick disease type C, severe early infantile neurologic onset

216978 Niemann-Pick disease type C, late infantile neurologic onset

216981 Niemann-Pick disease type C, juvenile neurologic onset

216986 Niemann-Pick disease type C, adult neurologic onset

2170 Methylcobalamin deficiency type cblG

217085 Mucopolysaccharidosis type 2, severe form

217093 Mucopolysaccharidosis type 2, attenuated form

217330 REN-related autosomal dominant tubulointerstitial kidney disease

2176 Infantile systemic hyalinosis

2182 Hydrocephalus with stenosis of the aqueduct of Sylvius

220386 Semilobar holoprosencephaly

220393 Diffuse cutaneous systemic sclerosis

220402 Limited cutaneous systemic sclerosis

220407 Limited systemic sclerosis

221008 Rothmund-Thomson syndrome type 1

221016 Rothmund-Thomson syndrome type 2

2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

226 Dihydropteridine reductase deficiency

227510 Multiple system atrophy, cerebellar type

228302 Carnitine palmitoyl transferase II deficiency, myopathic form

228305 Carnitine palmitoyl transferase II deficiency, severe infantile form

228308 Carnitine palmitoyl transferase II deficiency, neonatal form

228315 Idiopathic hypersomnia with long sleep time

228318 Idiopathic hypersomnia without long sleep time

228371 Foodborne botulism

2286 Solitary median maxillary central incisor syndrome

230800 Toxin-mediated infectious botulism 1

231108 Familial rhabdoid tumor

231169 Usher syndrome type 1

231178 Usher syndrome type 2

231183 Usher syndrome type 3

231214 Beta-thalassemia major

231222 Beta-thalassemia intermedia

231226 Dominant beta-thalassemia

231500 Hermansky-Pudlak syndrome with pulmonary fibrosis

231512 Hermansky-Pudlak syndrome without pulmonary fibrosis

231531 Hermansky-Pudlak syndrome type 7

231537 Hermansky-Pudlak syndrome type 8

231662 Isolated growth hormone deficiency type IA

231671 Isolated growth hormone deficiency type IB

231679 Isolated growth hormone deficiency type II

231692 Isolated growth hormone deficiency type III 2

238269 AApoAII amyloidosis

238642 Primary megaureter, adult-onset form

238646 Congenital primary megaureter, obstructed form

238650 Congenital primary megaureter, refluxing form

238654 Congenital primary megaureter, nonrefluxing and unobstructed form

2394 Pyruvate dehydrogenase E3 deficiency

240071 Classic progressive supranuclear palsy syndrome

240085 Progressive supranuclear palsy-parkinsonism syndrome

240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

240103 Progressive supranuclear palsy-corticobasal syndrome

240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

2466 MASA syndrome

247546 Acute neonatal citrullinemia type I

247573 Adult-onset citrullinemia type I

247623 Perinatal lethal hypophosphatasia

247638 Prenatal benign hypophosphatasia

247651 Infantile hypophosphatasia

247667 Childhood-onset hypophosphatasia

247676 Adult hypophosphatasia

247685 Odontohypophosphatasia

247698 Multiple endocrine neoplasia type 2A

247709 Multiple endocrine neoplasia type 2B

247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1

247798 MUTYH-related attenuated familial adenomatous polyposis

247806 APC-related attenuated familial adenomatous polyposis

248408 Familial hypodysfibrinogenemia

250984 Autosomal recessive Stickler syndrome

251393 Localized junctional epidermolysis bullosa, non-Herlitz type

252006 Yolk sac tumor of central nervous system

252018 Teratoma of the central nervous system

252021 Mixed germ cell tumor of central nervous system

252175 Vestibular schwannoma

254504 Inhalational botulism

254509 Iatrogenic botulism

254688 Complete hydatidiform mole

254693 Partial hydatidiform mole

255138 Pyruvate dehydrogenase E1-beta deficiency

255182 Pyruvate dehydrogenase E3-binding protein deficiency

2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2

2615 Nakajo-Nishimura syndrome

263417 Bartter syndrome with hypocalcemia

263516 Progressive myoclonic epilepsy type 3

263548 Peeling skin syndrome type A

263553 Peeling skin syndrome type B

263558 Peeling skin syndrome type C

268145 Classic maple syrup urine disease

268162 Intermediate maple syrup urine disease

268173 Intermittent maple syrup urine disease

268184 Thiamine-responsive maple syrup urine disease

268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

268363 Open iniencephaly

268366 Closed iniencephaly

268377 Total spina bifida aperta

268384 Thoracolumbosacral spina bifida aperta

268388 Lumbosacral spina bifida aperta

268392 Cervical spina bifida aperta

268397 Cervicothoracic spina bifida aperta

268740 Upper thoracic spina bifida aperta

268748 Total spina bifida cystica

268752 Thoracolumbosacral spina bifida cystica

268758 Lumbosacral spina bifida cystica

268762 Cervical spina bifida cystica

268766 Cervicothoracic spina bifida cystica

268770 Upper thoracic spina bifida cystica

268823 Occipital encephalocele

268826 Parietal encephalocele

268829 Basal encephalocele

268920 Isolated megalencephaly

268947 Unilateral focal polymicrogyria

268961 Isolated focal cortical dysplasia type I

268994 Isolated focal cortical dysplasia type II

269206 Isolated total cerebellar vermis agenesis

269209 Isolated partial cerebellar vermis agenesis

269212 Isolated Dandy-Walker malformation with hydrocephalus

269215 Isolated Dandy-Walker malformation without hydrocephalus

269505 Congenital communicating hydrocephalus

269510 Congenital non-communicating hydrocephalus

276212 Mucopolysaccharidosis type 6, rapidly progressing

276223 Mucopolysaccharidosis type 6, slowly progressing

276238 Machado-Joseph disease type 1

276241 Machado-Joseph disease type 2

276244 Machado-Joseph disease type 3

276624 Sporadic pheochromocytoma

276627 Sporadic secreting paraganglioma

279888 Acute endophthalmitis

279891 Chronic endophthalmitis

280065 Calciphylaxis cutis

280068 Visceral calciphylaxis

280195 Septopreoptic holoprosencephaly

280205 Laryngotracheoesophageal cleft type 0

280210 Pelizaeus-Merzbacher disease, connatal form

280219 Pelizaeus-Merzbacher disease, classic form

280224 Pelizaeus-Merzbacher disease, transitional form

280229 Pelizaeus-Merzbacher disease in female carriers

280234 Null syndrome

280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation

280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

280302 Autoimmune pancreatitis type 1

280315 Autoimmune pancreatitis type 2

280663 Hermansky-Pudlak syndrome type 9

280785 Bullous diffuse cutaneous mastocytosis

280794 Pseudoxanthomatous diffuse cutaneous mastocytosis

280802 Intralobar congenital pulmonary sequestration

280811 Extralobar congenital pulmonary sequestration

280821 Communicating congenital bronchopulmonary-foregut malformation

280827 Congenital pulmonary airway malformation type 0

280832 Congenital pulmonary airway malformation type 1

280840 Congenital pulmonary airway malformation type 2

280847 Congenital pulmonary airway malformation type 3

280854 Congenital pulmonary airway malformation type 4

2834 Wrinkly skin syndrome

284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

284343 Pleuropulmonary blastoma familial tumor susceptibility syndrome

284362 Fetal lung interstitial tumor

284408 Glycerol kinase deficiency, infantile form

284411 Glycerol kinase deficiency, juvenile form

284414 Glycerol kinase deficiency, adult form

284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

284963 Marfan syndrome type 1

284973 Marfan syndrome type 2

289362 Non-central nervous system-localized embryonal carcinoma

289846 Glutathione synthetase deficiency with 5-oxoprolinuria

289849 Glutathione synthetase deficiency without 5-oxoprolinuria

289857 Neonatal glycine encephalopathy

289860 Infantile glycine encephalopathy

289863 Atypical glycine encephalopathy

289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0

2907 Hereditary acrokeratotic poikiloderma, Weary type

2908 Kindler syndrome

293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

295018 Congenital pseudoarthrosis of the tibia

295020 Congenital pseudoarthrosis of the femur

295022 Congenital pseudoarthrosis of the fibula

295024 Congenital pseudoarthrosis of the radius

295026 Congenital pseudoarthrosis of the ulna

295038 Patella aplasia/hypoplasia, unilateral

295041 Patella aplasia/hypoplasia, bilateral

295053 Amelia of upper limb, unilateral

295055 Amelia of upper limb, bilateral

295057 Amelia of lower limb, unilateral

295059 Amelia of lower limb, bilateral

295061 Humeral agenesis/hypoplasia, unilateral

295063 Humeral agenesis/hypoplasia, bilateral

295065 Femoral agenesis/hypoplasia, unilateral

295067 Femoral agenesis/hypoplasia, bilateral

295069 Radial hemimelia, unilateral

295071 Radial hemimelia, bilateral

295073 Ulnar hemimelia, bilateral

295075 Ulnar hemimelia, unilateral

295077 Tibial hemimelia, unilateral

295079 Tibial hemimelia, bilateral

295081 Fibular hemimelia, unilateral

295083 Fibular hemimelia, bilateral

295085 Congenital absence of upper arm and forearm with hand present, unilateral

295087 Congenital absence of upper arm and forearm with hand present, bilateral

295089 Congenital absence of thigh and lower leg with foot present, unilateral

295091 Congenital absence of thigh and lower leg with foot present, bilateral

295093 Congenital absence of both forearm and hand, unilateral

295095 Congenital absence of both forearm and hand, bilateral

295097 Congenital absence of both lower leg and foot, unilateral

295099 Congenital absence of both lower leg and foot, bilateral

295101 Acheiria, unilateral

295103 Acheiria, bilateral

295105 Apodia, unilateral

295107 Apodia, bilateral

295110 Congenital absence/hypoplasia of thumb, unilateral

295112 Congenital absence/hypoplasia of thumb, bilateral

295140 Hyperphalangy, unilateral

295142 Hyperphalangy, bilateral

295144 Polydactyly of a biphalangeal thumb, unilateral

295146 Polydactyly of a biphalangeal thumb, bilateral

295148 Polydactyly of a triphalangeal thumb, unilateral

295150 Polydactyly of a triphalangeal thumb, bilateral

295152 Polydactyly of an index finger, unilateral

295154 Polydactyly of an index finger, bilateral

295159 Polysyndactyly, unilateral

295161 Polysyndactyly, bilateral

295163 Postaxial polydactyly type A, unilateral

295165 Postaxial polydactyly type A, bilateral

295167 Postaxial polydactyly type B, unilateral

295169 Postaxial polydactyly type B, bilateral

295171 Central polydactyly of fingers, unilateral

295173 Central polydactyly of fingers, bilateral

295187 Zygodactyly type 1

295189 Zygodactyly type 2

295191 Zygodactyly type 3

295193 Zygodactyly type 4

295195 Synpolydactyly type 1

295197 Synpolydactyly type 2

295199 Synpolydactyly type 3

295201 Congenital vertical talus, unilateral

295203 Congenital vertical talus, bilateral

295205 Humero-radio-ulnar synostosis, unilateral

295207 Humero-radio-ulnar synostosis, bilateral

295209 Humero-radial synostosis, unilateral

295211 Humero-radial synostosis, bilateral

295213 Humero-ulnar synostosis, unilateral

295215 Humero-ulnar synostosis, bilateral

295217 Radio-ulnar synostosis, unilateral

295219 Radio-ulnar synostosis, bilateral

295221 Madelung deformity, unilateral

295223 Madelung deformity, bilateral

295225 Congenital elbow dislocation, unilateral

295227 Congenital elbow dislocation, bilateral

295229 Congenital genu recurvatum

295232 Congenital genu flexum

295234 Congenital patella dislocation, unilateral

295237 Congenital patella dislocation, bilateral

295239 Macrodactyly of fingers, unilateral

295241 Macrodactyly of fingers, bilateral

295243 Macrodactyly of toes, unilateral

295245 Macrodactyly of toes, bilateral

306436 Congenital sucrase-isomaltase deficiency with starch intolerance

306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance

306462 Congenital sucrase-isomaltase deficiency without starch intolerance

306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance

306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance

306617 X-linked complicated spastic paraplegia type 1

306658 Familial normophosphatemic tumoral calcinosis

306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

308380 Methylcobalamin deficiency type cblDv1

308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2

308473 Erythrocyte galactose epimerase deficiency

308487 Generalized galactose epimerase deficiency

308552 Glycogen storage disease due to acid maltase deficiency, infantile onset

308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

309015 Familial lipoprotein lipase deficiency

309020 Familial apolipoprotein C-II deficiency

309155 Sandhoff disease, infantile form

309162 Sandhoff disease, juvenile form

309169 Sandhoff disease, adult form

309178 Tay-Sachs disease, B variant, infantile form

309185 Tay-Sachs disease, B variant, juvenile form

309192 Tay-Sachs disease, B variant, adult form

309239 Tay-Sachs disease, B1 variant

30925 Hereditary central diabetes insipidus

309252 Atypical Gaucher disease due to saposin C deficiency

309256 Metachromatic leukodystrophy, late infantile form

309263 Metachromatic leukodystrophy, juvenile form

309271 Metachromatic leukodystrophy, adult form

309282 Alpha-mannosidosis, infantile form

309288 Alpha-mannosidosis, adult form

309297 Mucopolysaccharidosis type 4A

309310 Mucopolysaccharidosis type 4B

309324 Free sialic acid storage disease, infantile form

309331 Intermediate severe Salla disease

309334 Salla disease

3107 Autosomal dominant Robinow syndrome

314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

314701 Primary systemic amyloidosis

314709 Primary localized amyloidosis

314721 Atypical dentin dysplasia due to SMOC2 deficiency

314889 Autosomal dominant proximal renal tubular acidosis

314911 Severe Canavan disease

314918 Mild Canavan disease

314970 Lymphocytic hypereosinophilic syndrome

315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

317428 Combined immunodeficiency due to ORAI1 deficiency

317430 Combined immunodeficiency due to STIM1 deficiency

3190 Subpulmonary stenosis

3192 Supravalvular pulmonary stenosis

324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

324299 Multiple paragangliomas associated with polycythemia

324604 Classic multiminicore myopathy

324703 ABetaL34V amyloidosis

324708 ABeta amyloidosis, Iowa type

324713 ABeta amyloidosis, Italian type

324718 ABetaA21G amyloidosis

324723 ABeta amyloidosis, Arctic type

324999 JMP syndrome

325004 CANDLE syndrome

325448 Leydig cell hypoplasia due to LHB deficiency

325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency

325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

329469 Acute megakaryoblastic leukemia without Down syndrome

329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis

329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis

329971 Generalized juvenile polyposis/juvenile polyposis coli

329977 Classic neuroendocrine tumor of appendix

329984 Goblet cell carcinoma

33110 Autosomal agammaglobulinemia

33402 Pediatric hepatocellular carcinoma

3460 Torg-Winchester syndrome

352734 Minimal pigment oculocutaneous albinism type 1

352737 Temperature-sensitive oculocutaneous albinism type 1

353277 Rubinstein-Taybi syndrome due to CREBBP mutations

353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

353308 Pyruvate carboxylase deficiency, infantile form

353314 Pyruvate carboxylase deficiency, severe neonatal type

353320 Pyruvate carboxylase deficiency, benign type

357027 Hereditary retinoblastoma

357034 Non-hereditary retinoblastoma

357074 Autosomal recessive cutis laxa type 2, classic type

357107 Arterial thoracic outlet syndrome

357131 Venous thoracic outlet syndrome

363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

363717 Alexander disease type I

363722 Alexander disease type II

363999 Non-immune hydrops fetalis

364013 Immune hydrops fetalis

36426 Stevens-Johnson syndrome

369955 Methylmalonic acidemia with homocystinuria, type cblJ

369962 Methylmalonic acidemia with homocystinuria, type cblX

370034 Familial syringomyelia

383 X-linked mixed deafness with perilymphatic gusher

391389 Familial episodic pain syndrome with predominantly upper body involvement

391392 Familial episodic pain syndrome with predominantly lower limb involvement

391428 HSD10 disease, infantile type

391457 HSD10 disease, neonatal type

391490 Adult-onset myasthenia gravis

391497 Juvenile myasthenia gravis

391504 Transient neonatal myasthenia gravis

391641 Feingold syndrome type 1

391646 Feingold syndrome type 2

394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

394532 Multiple acyl-CoA dehydrogenase deficiency, mild type

398079 Prader-Willi-like syndrome due to a point mutation

398173 Focal facial dermal dysplasia type II

398189 Focal facial dermal dysplasia type IV

401911 AXIN2-related attenuated familial adenomatous polyposis

402041 Autosomal recessive distal renal tubular acidosis

411536 Mild phosphoribosylpyrophosphate synthetase superactivity

411543 Severe phosphoribosylpyrophosphate synthetase superactivity

411629 Nephropathic infantile cystinosis

411634 Juvenile nephropathic cystinosis

411641 Ocular cystinosis

420429 Glycogen storage disease due to acid maltase deficiency, late-onset

423461 Mucolipidosis type III alpha/beta

423470 Mucolipidosis type III gamma

423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

428 Autosomal dominant hypocalcemia

438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

438266 Progressive encephalomyelitis with rigidity and myoclonus

439729 Cutaneous polyarteritis nodosa

439737 Primary polyarteritis nodosa 3

439746 Secondary polyarteritis nodosa

439755 Single-organ polyarteritis nodosa

439762 Systemic polyarteritis nodosa

441447 Early-onset posterior subcapsular cataract

441452 Early-onset lamellar cataract

443057 Sporadic porphyria cutanea tarda

443062 Familial porphyria cutanea tarda

443192 Classic stiff person syndrome

443804 Focal stiff limb syndrome

447753 Autosomal dominant complex spastic paraplegia type 9A

447757 Autosomal dominant complex spastic paraplegia type 9B

447877 Polymerase proofreading-related adenomatous polyposis

454840 NTHL1-related attenuated familial adenomatous polyposis

464311 Intellectual disability syndrome due to a DYRK1A point mutation

466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

47 X-linked agammaglobulinemia

480476 Progressive familial intrahepatic cholestasis type 5

480483 Progressive familial intrahepatic cholestasis type 4

480491 MYO5B-related progressive familial intrahepatic cholestasis

480536 MSH3-related attenuated familial adenomatous polyposis

48162 Lewis-Sumner syndrome

48736 Embryonal carcinoma of the central nervous system

494421 Sacrococcygeal teratoma

537 Lyell syndrome

629 Short stature due to growth hormone qualitative anomaly

632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

65283 Timothy syndrome

67045 X-linked intellectual disability with isolated growth hormone deficiency

75233 Wolman disease

75234 Cholesteryl ester storage disease

77259 Gaucher disease type 1

77260 Gaucher disease type 2

77261 Gaucher disease type 3

79076 Juvenile polyposis of infancy

79133 Focal facial dermal dysplasia type I

79234 Crigler-Najjar syndrome type 1

79235 Crigler-Najjar syndrome type 2

79243 Pyruvate dehydrogenase E1-alpha deficiency

79244 Pyruvate dehydrogenase E2 deficiency

79246 Pyruvate dehydrogenase phosphatase deficiency

79253 Mild phenylketonuria

79254 Classic phenylketonuria

79255 GM1 gangliosidosis type 1

79256 GM1 gangliosidosis type 2

79257 GM1 gangliosidosis type 3

79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

79279 Alpha-N-acetylgalactosaminidase deficiency type 1

79280 Alpha-N-acetylgalactosaminidase deficiency type 2

79281 Alpha-N-acetylgalactosaminidase deficiency type 3

79282 Methylmalonic acidemia with homocystinuria, type cblC

79283 Methylmalonic acidemia with homocystinuria, type cblD

79284 Methylmalonic acidemia with homocystinuria type cblF

79292 Fish-eye disease

79293 Familial LCAT deficiency

79304 Progressive familial intrahepatic cholestasis type 2

79305 Progressive familial intrahepatic cholestasis type 3

79306 Progressive familial intrahepatic cholestasis type 1

79310 Vitamin B12-responsive methylmalonic acidemia type cblA

79311 Vitamin B12-responsive methylmalonic acidemia type cblB

79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-

79402 Generalized junctional epidermolysis bullosa, non-Herlitz type

79431 Oculocutaneous albinism type 1A

79434 Oculocutaneous albinism type 1B

79459 Follicular atrophoderma-basal cell carcinoma

79466 Inflammatory linear verrucous epidermal nevus

79467 Verrucous nevus

79468 Acanthokeratolytic verrucous nevus

79476 Griscelli disease type 1

79477 Griscelli disease type 2

79478 Griscelli disease type 3

79479 Pemphigus vegetans

79483 Phakomatosis cesioflammea

79484 Phakomatosis cesiomarmorata

79485 Phakomatosis spilorosea

79495 X-linked congenital generalized hypertrichosis

79651 Mild hyperphenylalaninemia

79665 Gardner syndrome

83330 Proximal spinal muscular atrophy type 1

83418 Proximal spinal muscular atrophy type 2

83419 Proximal spinal muscular atrophy type 3

83420 Proximal spinal muscular atrophy type 4

85196 Nodulosis-arthropathy-osteolysis syndrome

85212 Fetal Gaucher disease

85295 HSD10 disease, atypical type

867 Familial multiple trichoepithelioma

88949 MUC1-related autosomal dominant tubulointerstitial kidney disease

88950 UMOD-related autosomal dominant tubulointerstitial kidney disease

894 Waardenburg syndrome type 1

895 Waardenburg syndrome type 2

896 Waardenburg syndrome type 3

89844 Lissencephaly syndrome, Norman-Roberts type

89938 Infantile Bartter syndrome with sensorineural deafness

90153 Mandibuloacral dysplasia with type A lipodystrophy

90154 Mandibuloacral dysplasia with type B lipodystrophy

90290 CREST syndrome

90307 Parkes Weber syndrome

90308 Klippel-Trénaunay syndrome

90321 Cockayne syndrome type 1

90322 Cockayne syndrome type 2

90324 Cockayne syndrome type 3

90389 Telangiectasia macularis eruptiva perstans

90390 Anonychia-onychodystrophy syndrome

90398 Localized lichen myxedematosus with mixed features of different subtypes

90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

90400 Scleromyxedema without monoclonal gammopathy

90647 Jervell and Lange-Nielsen syndrome

90650 Otopalatodigital syndrome type 1

90652 Otopalatodigital syndrome type 2

90653 Stickler syndrome type 1

90654 Stickler syndrome type 2

91352 Germinoma of the central nervous system

93100 Renal agenesis, unilateral

93172 Renal dysplasia, unilateral

93173 Renal dysplasia, bilateral

93176 Unilateral congenital megacalycosis

93177 Congenital bilateral megacalycosis

93258 Pfeiffer syndrome type 1

93259 Pfeiffer syndrome type 2

93260 Pfeiffer syndrome type 3

93274 Thanatophoric dysplasia type 2

93276 Polyostotic fibrous dysplasia

93277 Monostotic fibrous dysplasia

93296 Achondrogenesis type 2

93297 Hypochondrogenesis

93298 Achondrogenesis type 1B

93299 Achondrogenesis type 1A

93328 Autosomal dominant omodysplasia

93329 Autosomal recessive omodysplasia

93399 Juvenile sialidosis type 2

93400 Congenital sialidosis type 2

93473 Hurler syndrome

93474 Scheie syndrome

93476 Hurler-Scheie syndrome

93556 Heavy chain deposition disease

93557 Light and heavy chain deposition disease

93558 Light chain deposition disease

93560 AApoAI amyloidosis

93561 ALys amyloidosis

93562 AFib amyloidosis

93583 Congenital thrombotic thrombocytopenic purpura

93585 Acquired thrombotic thrombocytopenic purpura

93589 Late-onset nephronophthisis

93591 Infantile nephronophthisis

93592 Juvenile nephronophthisis

93598 Primary hyperoxaluria type 1

93599 Primary hyperoxaluria type 2

93600 Primary hyperoxaluria type 3

93604 Antenatal Bartter syndrome

93605 Classic Bartter syndrome

93607 Autosomal recessive proximal renal tubular acidosis

93608 Autosomal dominant distal renal tubular acidosis

93610 Distal renal tubular acidosis with anemia

93616 Hemoglobin H disease

93622 Dent disease type 1

93623 Dent disease type 2

93682 Pediatric Castleman disease

93685 Localized Castleman disease

93686 Multicentric Castleman disease

93924 Lobar holoprosencephaly

93925 Alobar holoprosencephaly

93926 Midline interhemispheric variant of holoprosencephaly

93928 Epispadias

93929 Cloacal exstrophy

93930 Bladder exstrophy

93938 Laryngotracheoesophageal cleft type 1

93939 Laryngotracheoesophageal cleft type 2

93940 Laryngotracheoesophageal cleft type 3

93941 Laryngotracheoesophageal cleft type 4

93945 X-linked intellectual disability, Porteous type

93946 Hamel cerebro-palato-cardiac syndrome

93947 X-linked intellectual disability, Golabi-Ito-Hall type

93950 X-linked intellectual disability, Sutherland-Haan type

94150 Anonychia congenita totalis

95448 Aortic valve atresia

95474 Double-orifice mitral valve

95626 Acquired central diabetes insipidus

96265 Leydig cell hypoplasia due to complete LH resistance

96266 Leydig cell hypoplasia due to partial LH resistance

97345 ABri amyloidosis

97346 ADan amyloidosis

97361 Renal hypoplasia, unilateral

97362 Renal hypoplasia, bilateral

97363 Unilateral multicystic dysplastic kidney

97364 Bilateral multicystic dysplastic kidney

97563 Pauci-immune glomerulonephritis with ANCA

97564 Pauci-immune glomerulonephritis without ANCA

97685 17q11 microdeletion syndrome

98813 Hypohidrotic ectodermal dysplasia with immunodeficiency

98815 Benign childhood occipital epilepsy, Panayiotopoulos type

98816 Benign childhood occipital epilepsy, Gastaut type

98880 Familial afibrinogenemia

98881 Familial dysfibrinogenemia

98889 Bilateral perisylvian polymicrogyria

98892 Periventricular nodular heterotopia

98905 Congenital multicore myopathy with external ophthalmoplegia

98933 Multiple system atrophy, parkinsonian type

98948 Congenital symblepharon

98949 Complete cryptophthalmia

98950 Partial cryptophthalmia

98951 Inverse Marcus-Gunn phenomenon

98979 Chandler syndrome

98980 Cogan-Reese syndrome

98981 Essential iris atrophy

98984 Pulverulent cataract

98985 Early-onset sutural cataract

98988 Early-onset anterior polar cataract

98989 Cerulean cataract

98990 Coralliform cataract

98991 Early-onset nuclear cataract

98992 Early-onset partial cataract 7

98993 Early-onset posterior polar cataract

98994 Total early-onset cataract

98995 Early-onset zonular cataract 3

99042 Congenitally uncorrected transposition of the great arteries with coarctation

99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

99045 Double outlet right ventricle with subpulmonary ventricular septal defect

99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

99051 Discrete fixed membranous subaortic stenosis

99052 Discrete fibromuscular subaortic stenosis

99053 Tunnel subaortic stenosis

99054 Valvular pulmonary stenosis

99064 Straddling and/or overriding mitral valve

99066 Complete atrioventricular canal-left heart obstruction syndrome

99067 Complete atrioventricular canal-ventricle hypoplasia syndrome

99068 Complete atrioventricular canal-tetralogy of Fallot syndrome

99069 Univentricular heart with single atrio-ventricular valve

99070 Aorto-right ventricular tunnel

99071 Aorto-left ventricular tunnel

99103 Atrial septal defect, ostium secundum type

99104 Atrial septal defect, coronary sinus type

99105 Atrial septal defect, sinus venosus type

99106 Atrial septal defect, ostium primum type

99361 Familial medullary thyroid carcinoma

99731 Isolated sulfite oxidase deficiency

99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency

99748 Pontiac fever

99750 Atypical progressive supranuclear palsy syndrome 4

99756 Alveolar rhabdomyosarcoma

99757 Embryonal rhabdomyosarcoma

99789 Dentin dysplasia type I

99791 Dentin dysplasia type II

99818 Turcot syndrome with polyposis

99842 Leukocyte adhesion deficiency type I

99843 Leukocyte adhesion deficiency type II

99844 Leukocyte adhesion deficiency type III

99853 Ovarioleukodystrophy

99854 Cree leukoencephalopathy

99858 Idiopathic syringomyelia

99887 Acute megakaryoblastic leukemia in Down syndrome

99920 Acute graft versus host disease

99921 Chronic graft versus host disease

99932 Heiner syndrome

99933 Pleuropulmonary blastoma type 1

99934 Pleuropulmonary blastoma type 2

99935 Pleuropulmonary blastoma type 3

99960 Benign recurrent intrahepatic cholestasis type 1

99961 Benign recurrent intrahepatic cholestasis type 2

99965 O'Sullivan-McLeod syndrome

99966 Atypical teratoid rhabdoid tumor

99981 Apnea of prematurity

99989 Intermediate DEND syndrome

99990 Brill-Zinsser disease

99991 Relapsing epidemic typhus

99994 Complex regional pain syndrome type 2

99995 Complex regional pain syndrome type 1