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377794 group of disorders

definition

A collection of different types of phenomes, sharing a given characteristic and therefore being classified together.

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100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

100076 Duodenal neuroendocrine tumor

100087 Thyroid tumor 1

100088 Thyroid carcinoma 1

100090 Rare parathyroid tumor 1

100091 Adrenal/paraganglial tumor 1

100092 Gastroenteropancreatic endocrine tumor 2

100094 Multiple polyglandular tumor 1

100100 Thymic tumor 1

100101 Neuroendocrine tumor with other location

100932 Nuclear oculomotor paralysis

100979 Autosomal dominant complex spastic paraplegia

100980 Autosomal dominant pure spastic paraplegia

100981 Autosomal recessive complex spastic paraplegia 1

100982 Autosomal recessive pure spastic paraplegia

101433 Rare urogenital disease 3

101435 Rare genetic eye disease 20

101934 Genetic cardiac rhythm disease

101936 Rare gastroesophageal disease 1

101937 Rare pancreatic disease 2

101938 Rare vascular liver disease

101939 Rare parenchymal liver disease

101940 Rare metabolic liver disease 5

101941 Rare biliary tract disease 1

101943 Rare hepatic and biliary tract tumor 2

101944 Rare pulmonary disease 1

101945 Rare bronchopulmonary tumor

101949 Rare acquired eye disease 2

101950 Rare eye tumor

101952 Rare diabetes mellitus 5

101953 Rare dyslipidemia 3

101954 Rare adrenal disease 6

101955 Rare thyroid disease 4

101956 Polyendocrinopathy 2

101957 Pituitary deficiency 2

101958 Primary adrenal insufficiency 1

101959 Chronic primary adrenal insufficiency 2

101960 Genetic chronic primary adrenal insufficiency 1

101963 Acquired chronic primary adrenal insufficiency

101972 Combined T and B cell immunodeficiency 2

101977 Immunodeficiency predominantly affecting antibody production 5

101985 Quantitative and/or qualitative congenital phagocyte defect 2

101987 Constitutional neutropenia 2

101988 Primary immunodeficiency due to a defect in innate immunity 6

101992 Immunodeficiency due to a complement cascade protein anomaly 2

101995 Periodic fever syndrome 2

101997 Primary immunodeficiency 2

101998 Rare epilepsy 10

102000 Medullar disease 1

102002 Rare ataxia 3

102003 Rare movement disorder 5

102005 Brain inflammatory disease 1

102006 Neurovascular malformation 1

102009 Classic lissencephaly

102010 Other syndrome with lissencephaly as a major feature

102011 Lissencephaly type 3

102012 Pure hereditary spastic paraplegia 3

102013 Complex hereditary spastic paraplegia 3

102014 Autosomal dominant limb-girdle muscular dystrophy

102015 Autosomal recessive limb-girdle muscular dystrophy

102020 Autosomal monosomy 3

102021 Rickettsial disease 2

102022 Spotted fever rickettsiosis

102023 Typhus-group rickettsiosis

102024 Human herpesvirus 8-related disorder

102237 Unexplained periodic fever syndrome

102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 3

102284 Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

102369 Rare syndromic intellectual disability 10

102373 Primary glomerular disease 2

1037 Arthrogryposis multiplex congenita

104003 Congenital intestinal transport defect

104004 Intestinal disease due to vitamin absorption anomaly

104005 Intestinal disease due to fat malabsorption

104006 Congenital intestinal disease due to an enzymatic defect

104007 Congenital enteropathy involving intestinal mucosa development

104008 Short bowel syndrome 1

104009 Rare disease involving intestinal motility

104010 Intestinal polyposis syndrome

104011 Rare tumor of intestine 5

104012 Rare inflammatory bowel disease

104013 Metabolic disease with intestinal involvement 2

1047 Sideroblastic anemia 1

1081 Coronary artery congenital malformation 1

108959 Non-syndromic esophageal malformation 1

108961 Syndromic esophageal malformation

108963 Non-syndromic gastroduodenal malformation

108965 Syndromic gastroduodenal malformation

108967 Non-syndromic intestinal malformation

108969 Syndromic intestinal malformation

108971 Non-syndromic visceral malformation

108973 Syndromic visceral malformation

108977 Non-syndromic diaphragmatic or abdominal wall malformation

108979 Syndromic diaphragmatic or abdominal wall malformation 1

108985 Non-syndromic developmental defect of the eye 4

108987 Syndromic developmental defect of the eye

108989 Non-syndromic central nervous system malformation 5

108991 Syndrome with a central nervous system malformation as major feature 5

108993 Non-syndromic respiratory or mediastinal malformation

108995 Syndromic respiratory or mediastinal malformation 1

108997 Rare anemia 6

108999 Rare intoxication 1

109007 Arthrogryposis syndrome 5

109009 Syndrome with limb malformations as a major feature 8

109011 Non-syndromic limb malformation 6

1132 Aortic arch defects

1138 Abnormal origin of the pulmonary artery

1172 Autosomal recessive cerebellar ataxia 6

117569 Rare intestinal disease 13

117573 Syndromic anorectal malformation 1

1293 Brachyolmia

137 Congenital disorder of glycosylation 4

137586 Herpes simplex virus keratitis

137807 Primary cutaneous amyloidosis

137905 Syndromic optic nerve hypoplasia

138041 Pierre Robin syndrome associated with collagen disease

138044 Rare disease with Pierre Robin syndrome 5

138047 Pierre Robin syndrome associated with a chromosomal anomaly

138050 Pierre Robin syndrome associated with branchial archs anomalies

138055 Pierre Robin syndrome associated with bone disease

138059 Teratogenic Pierre Robin syndrome

139009 Developmental anomaly of metabolic origin 7

139012 Rare bone development disorder 2

139021 Malformation syndrome with short stature 1

139024 Overgrowth/obesity syndrome 2

139027 Malformation syndrome with skin/mucosae involvement 5

139030 Rare developmental defect with connective tissue involvement 2

139033 Progeroid syndrome

139036 Branchial arch or oral-acral syndrome 1

139039 Orofacial clefting syndrome

139042 Malformation syndrome with odontal and/or periodontal component 1

139390 Isolated craniosynostosis

139393 Syndromic craniosynostosis 2

140162 Inherited cancer-predisposing syndrome 4

140450 Hereditary motor and sensory neuropathy 5

140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 1

140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 1

140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 1

140465 Autosomal dominant distal hereditary motor neuropathy

140468 Autosomal recessive distal hereditary motor neuropathy

140471 Hereditary sensory and autonomic neuropathy 2

140474 Autosomal dominant hereditary sensory and autonomic neuropathy

140477 Autosomal recessive hereditary sensory and autonomic neuropathy 1

140653 Neuro-ophthalmological disease 6

140874 Joubert syndrome and related disorders

140997 Orofaciodigital syndrome

141132 Oculo-auriculo-vertebral spectrum

141189 Cerebrofacial arteriovenous metameric syndrome

141229 Facial cleft 4

141234 Median facial cleft

141253 Oblique facial cleft

141269 Lateral facial cleft

1431 Paroxysmal dyskinesia

1463 Triatrial heart

148 Multiple carboxylase deficiency

1505 Short rib-polydactyly syndrome

1531 Craniosynostosis 2

155832 Rare head and neck malformation 9

155835 Cysts and fistulae of the face and oral cavity

155867 Paramedian facial cleft

155896 Otomandibular dysplasia 3

155899 Mandibulofacial dysostosis

156005 Primary glaucoma

156071 Keratoconus 1

156140 Predominantly large-vessel vasculitis

156143 Predominantly medium-vessel vasculitis

156146 Predominantly small-vessel vasculitis 2

156149 Immune complex mediated vasculitis

156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis

156159 Isolated dystonia 2

156202 Otomandibular dysplasia associated with monogenic syndromes

156207 Macroglossia

156212 Hypoglossia/aglossia 1

156215 Oromandibular-limb anomalies syndrome 2

156224 Paralytic facial malformation

156230 Facial arteriovenous malformation

156237 Syndrome or malformation associated with head and neck malformations 5

156243 Pinnae and external auditory canal anomaly

156246 Nose and cavum anomaly

156249 Larynx anomaly

156252 Tracheal anomaly

156532 Rare syndrome with cardiac malformations 2

156601 Rare genetic hepatic disease 3

156604 Genetic parenchymatous liver disease

156607 Genetic biliary tract disease

156610 Rare genetic respiratory disease 3

156619 Rare genetic urogenital disease 2

156622 Genetic urogenital tract malformation 2

156629 Genetic hypertension 1

156638 Rare genetic endocrine disease 15

156643 Genetic endocrine growth disease 7

1576 Infantile bilateral striatal necrosis

157843 Trigeminal autonomic cephalalgia

157987 Non-Langerhans cell histiocytosis

158032 Hemophagocytic syndrome 2

158038 Primary hemophagocytic lymphohistiocytosis 1

158041 Secondary hemophagocytic lymphohistiocytosis

158124 Genetic dementia 4

158266 Huntington disease-like syndrome 1

158300 Rare genetic hematologic disease 3

158661 Suprabasal epidermolysis bullosa simplex

158665 Basal epidermolysis bullosa simplex

163209 Non-syndromic cerebral malformation due to abnormal neuronal migration 2

163531 Chronic cutaneous lupus erythematosus

163582 Rare bacterial infectious disease 3

163585 Rare viral disease 3

163588 Rare parasitic disease 2

163591 Rare mycosis

163631 Bile acid synthesis defect with cholestasis and malabsorption 1

163637 Rare disorder related with pregnancy, childbirth and puerperium

163892 Limbic encephalitis 2

163895 Paraneoplastic limbic encephalitis 1

163903 Limbic encephalitis associated with antibodies to cell membrane antigens

163918 Non-paraneoplastic limbic encephalitis

164001 Rare odontal or periodontal disorder 1

164004 Middle ear anomaly

164823 Rare acquired aplastic anemia 1

165 Neutral lipid storage disease

165652 Rare genetic gastroenterological disease 3

165655 Genetic intestinal disease 10

165658 Genetic gastro-esophageal disease

165661 Genetic pancreatic disease 1

165704 Non-syndromic urogenital tract malformation 3

165707 Syndromic urogenital tract malformation 2

165711 Rare abdominal surgical disease 4

165985 Diazoxide-sensitive diffuse hyperinsulinism

165988 Diazoxide-resistant diffuse hyperinsulinism

166 Charcot-Marie-Tooth disease 4

166295 Benign non-familial infantile seizures

166311 Benign partial infantile seizures 1

166463 Epilepsy syndrome 4

166466 Neurocutaneous syndrome with epilepsy

166469 Chromosomal anomaly with epilepsy as a major feature

166472 Monogenic disease with epilepsy 4

166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 1

166478 Cerebral malformation with epilepsy 3

166481 Metabolic diseases with epilepsy 9

166484 Inflammatory and autoimmune disease with epilepsy 2

166487 Cerebral diseases of vascular origin with epilepsy

166490 Infectious disease with epilepsy

166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect

167714 Unclassified acute myeloid leukemia

167759 Hereditary dentin defect

167762 Rare disease with dentinogenesis imperfecta

167848 Cardiomyopathy 5

168194 Rare cardiac tumor

168778 Rare pervasive developmental disorder 1

168803 Primary peritoneal tumor 1

168807 Primary malignant peritoneal tumor

168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1

168956 Hypereosinophilic syndrome

169163 Familial scaphocephaly syndrome

169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies

169349 Immuno-osseous dysplasia

169355 Immunodeficiency syndrome with autoimmunity

169361 Immune dysregulation disease with immunodeficiency 3

169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells

169826 Congenital vitamin K-dependent coagulation factors deficiency

171895 Myeloid hemopathy 5

171898 Lymphoid hemopathy 4

171901 Primary cutaneous T-cell lymphoma 2

171915 B-cell non-Hodgkin lymphoma 2

171918 T-cell non-Hodgkin lymphoma 1

172976 Congenital myopathy with cores

174590 Congenital hypogonadotropic hypogonadism 3

176 Non-rhizomelic chondrodysplasia punctata

177101 Rare adult hypothyroidism

177107 Syndromic hypothyroidism

178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations

178040 Peripheral precocious puberty

178045 Transient congenital hypothyroidism 2

178548 Indolent primary cutaneous T-cell lymphoma 2

178551 Aggressive primary cutaneous T-cell lymphoma

178554 Aggressive primary cutaneous B-cell lymphoma

178557 Indolent primary cutaneous B-cell lymphoma

178563 Primary cutaneous B-cell lymphoma 2

178566 Mycosis fungoides and variants

178996 Acquired neutropenia

179006 Primary immunodeficiency due to a defect in adaptive immunity 4

179490 Obesity due to congenital leptin resistance

180062 Uterovaginal malformation 2

180065 Non-syndromic uterovaginal malformation 3

180068 Partial bilateral aplasia of the Müllerian ducts

180071 Unilateral aplasia of the Müllerian ducts

180114 Unicervical bicornuate uterus

180122 Septate uterus

180134 Bicornuate uterus 1

180148 Syndromic uterovaginal malformation

180151 Rare vaginal malformation

180163 Rare breast malformation 2

180170 Excess breast volume or number

180173 Deficient breast volume or number 1

180193 Syndromic breast hypoplasia/aplasia

180199 Rare non-malformative gynecologic or obstetric disease 3

180202 Rare non-malformative breast disease

180205 Rare non-malformative uterovaginal or vulvovaginal disease

180208 Anomaly of puberty or/and menstrual cycle 4

180220 Rare uterine adnexal tumor 2

180250 Rare breast tumor 2

180253 Rare benign breast tumor

180257 Rare malignant breast tumor

180303 Rare non-malformative uterine adnexal disease

180312 Rare vulvovaginal tumor 1

180766 Malformative syndrome with dentinogenesis imperfecta

180772 Rare disease with autism

180776 Non-syndromic diaphragmatic or thoracic malformation 1

180779 Syndromic diaphragmatic or thoracic malformation 1

180821 Rare gastroesophageal tumor 2

180824 Rare tumor of pancreas 1

181368 Rare insulin-resistance syndrome

181371 Rare diabetes mellitus type 1

181376 Rare diabetes mellitus type 2

181381 Other rare diabetes mellitus

181384 Rare hypothalamic or pituitary disease 2

181387 Rare disorder with hypogonadotropic hypogonadism

181390 Hypogonadotropic hypogonadism associated with other endocrinopathies

181393 Growth hormone insensitivity syndrome

181396 Rare hypothyroidism 2

181399 Rare hyperthyroidism

181402 Syndrome with hypoparathyroidism

181405 Rare hypoparathyroidism 2

181408 Rare hyperparathyroidism 1

181412 Adrenogenital syndrome 1

181415 Rare primary hyperaldosteronism 2

181419 Rare hypoaldosteronism

181422 Rare hyperlipidemia 4

181425 Major hypertriglyceridemia

181428 Hyperalphalipoproteinemia

181431 Rare hypolipidemia 2

181437 Rare syndromic dyslipidemia

181441 Rare disorder with hypergonadotropic hypogonadism

182040 Aplastic anemia 2

182043 Rare constitutional hemolytic anemia 2

182047 Rare acquired hemolytic anemia 2

182054 Rare thrombotic disease of hematologic origin 2

182058 Primary orthostatic hypotension

182061 Cerebellar malformation 3

182064 Rare neuroinflammatory or neuroimmunological disease 3

182067 Glial tumor 5

182070 Rare neurodegenerative disease 6

182073 Syndromic neurometabolic disease with non-X-linked intellectual disability 1

182076 Syndromic neurometabolic disease with X-linked intellectual disability 2

182079 ARX-related epileptic encephalopathy 1

182083 Channelopathy with epilepsy 1

182086 Acquired peripheral neuropathy 11

182090 Pulmonary arterial hypertension 2

182095 Interstitial lung disease 3

182098 Pneumoconiosis

182101 Idiopathic eosinophilic pneumonia

182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease

182108 Thoracic malformation 2

182111 Respiratory malformation 1

182114 Rare urogenital tumor 3

182117 Non-syndromic urogenital tract malformation of female 2

182121 Non-syndromic urogenital tract malformation of male

182124 Non-syndromic urogenital tract malformation of male and female 2

182130 Tumor of endocrine glands 6

182214 Rare inflammatory eye disease 2

182222 Rare systemic disease 6

182228 Systemic autoimmune disease 4

182231 Rare rheumatologic disease 3

182734 Genetic urticaria

183422 Polymalformative genetic syndrome with increased risk of developing cancer 1

183426 Genetic epidermal disorder 8

183435 Inherited ichthyosis 2

183438 Genetic erythrokeratoderma 1

183441 Genetic acrokeratoderma

183444 Genetic porokeratosis

183447 Genetic epidermal appendage anomaly 4

183450 Genetic hair anomaly 4

183454 Genetic nail anomaly 2

183460 Genetic sebaceous gland anomaly

183463 Genetic pigmentation anomaly of the skin 2

183466 Genetic hyperpigmentation of the skin

183469 Genetic hypopigmentation of the skin 2

183472 Genetic dermis disorder 4

183478 Genetic skin vascular disorder

183481 Genetic mixed dermis disorder

183484 Genetic subcutaneous tissue disorder 1

183487 Genetic skin tumor

183490 Genetic photodermatosis 1

183494 Genetic immune deficiency with skin involvement

183497 Genetic neuromuscular disease 5

183500 Genetic neurodegenerative disease 5

183503 Genetic central nervous system and retinal vascular disease 3

183506 Genetic central nervous system malformation 2

183509 Rare genetic headache

183512 Rare genetic epilepsy 6

183515 Rare genetic medullar disease

183518 Rare hereditary ataxia 5

183521 Rare genetic movement disorder 4

183524 Rare genetic bone disease 6

183527 Genetic bone tumor

183530 Rare genetic developmental defect during embryogenesis 23

183533 Genetic multiple congenital anomalies/dysmorphic syndrome 4

183536 Genetic congenital limb malformation 2

183539 Genetic renal or urinary tract malformation 2

183542 Genetic cranial malformation 1

183545 Genetic digestive tract malformation 4

183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen 2

183554 Genetic respiratory or mediastinal malformation 1

183557 Genetic developmental defect of the eye 4

183570 Genetic malformation syndrome with short stature 1

183573 Genetic overgrowth/obesity syndrome 2

183576 Genetic branchial arch or oral-acral syndrome 1

183580 Genetic malformation syndrome with odontal and/or periodontal component

183583 Genetic head and neck malformation 7

183586 Genetic glomerular disease 2

183589 Genetic thrombotic microangiopathy

183592 Genetic renal tubular disease 5

183595 Genetic renal tumor

183598 Rare genetic palpebral, lacrimal system and conjunctival disease 3

183601 Rare genetic refraction anomaly 2

183607 Genetic lens and zonula anomaly 4

183616 Genetic neuro-ophthalmological disease 6

183619 Genetic eye tumor

183622 Genetic respiratory malformation

183625 Rare genetic diabetes mellitus 2

183628 Rare genetic hypothalamic or pituitary disease 2

183631 Rare genetic thyroid disease 2

183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder 3

183637 Rare genetic adrenal disease 3

183643 Genetic polyendocrinopathy 1

183651 Rare constitutional anemia 6

183654 Rare genetic coagulation disorder 4

183660 Severe combined immunodeficiency 3

183669 Agammaglobulinemia 1

183681 Functional neutrophil defect

183710 Genetic susceptibility to infections due to particular pathogens 1

183731 Rare genetic gynecological and obstetrical diseases 4

183734 Genetic gynecological tumor 1

183757 Rare genetic intellectual disability 1

183763 Rare genetic syndromic intellectual disability 10

183770 Rare genetic immune disease 1

1866 Focal, segmental or multifocal dystonia

187 Citrullinemia 1

19 2-hydroxyglutaric aciduria

194 Ocular coloboma

1991 Cleft lip with or without cleft palate

199257 Superficial fibromatosis

199633 Cerebral malformation 3

199639 Syndrome with corpus callosum agenesis /dysgenesis as a major feature 1

200037 Paroxysmal dystonia 1

2014 Cleft palate

2017 Sternal cleft

202940 Anomaly of puberty or/and menstrual cycle of genetic origin 3

202948 Syndromic microphthalmia

2034 Filariasis

206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency

206613 Infectious disease with peripheral neuropathy

206634 Genetic skeletal muscle disease 6

206638 Acquired skeletal muscle disease 3

206644 Progressive muscular dystrophy 4

206647 Myotonic dystrophy

206650 Autosomal dominant distal myopathy

206653 Autosomal recessive distal myopathy

206656 Non-dystrophic myopathy 5

206662 Inclusion myopathy

206701 Bulbospinal muscular atrophy 4

206704 Bulbospinal muscular atrophy of childhood

206707 Bulbospinal muscular atrophy of adult

206710 Generalized bulbospinal muscular atrophy

206953 Muscular lipidosis 2

206959 Muscular glycogenosis

206966 Mitochondrial myopathy

206970 Myotonic syndrome 3

206973 Congenital myotonia

206976 Periodic paralysis

206982 Muscular tumor

206988 Infectious, fungal or parasitic myopathy 1

206997 Parasitic myositis

207012 Spinal muscular atrophy associated with central nervous system anomaly

207015 Rare hereditary disease with peripheral neuropathy 3

207018 Rare hereditary metabolic disease with peripheral neuropathy 3

207021 Rare hereditary systemic disease with peripheral neuropathy

207025 Rare hereditary neurologic disease with peripheral neuropathy 1

207028 Cerebellar ataxia with peripheral neuropathy

207038 Acute and subacute inflammatory demyelinating polyneuropathy 1

207046 Malignant lymphoma with peripheral neuropathy

207049 Qualitative or quantitative protein defects in neuromuscular diseases 27

207052 Qualitative or quantitative defects of sarcoglycan 4

207060 Qualitative or quantitative defects of alpha-sarcoglycan

207063 Qualitative or quantitative defects of beta-sarcoglycan

207067 Qualitative or quantitative defects of gamma-sarcoglycan

207070 Qualitative or quantitative defects of delta-sarcoglycan

207073 Qualitative or quantitative defects of dysferlin

207078 Qualitative or quantitative defects of caveolin-3

207085 Qualitative or quantitative defects of dystrophin

207090 Qualitative or quantitative defects of collagen 6

207094 Qualitative or quantitative defects of merosin

207098 Qualitative or quantitative defects of integrin alpha-7

207101 Qualitative or quantitative defects of perlecan

207104 Qualitative or quantitative defects of calpain

207107 Qualitative or quantitative defects of TRIM32

207110 Qualitative or quantitative defects of myotubularin

207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 6

207119 Qualitative or quantitative defects of FKRP

207122 Qualitative or quantitative defects of fukutin

2076 X-linked intellectual disability-epilepsy syndrome

208508 Autosomal dominant cerebellar ataxia type II

208593 Genetic hypoparathyroidism 2

208596 Genetic hyperparathyroidism 1

208650 Cryopyrin-associated periodic syndrome

208974 Chronic acquired demyelinating polyneuropathy 1

208978 Chronic polyradiculoneuropathy

208984 Acquired sensory ganglionopathy 2

208989 Non-paraneoplastic sensory ganglionopathy

208999 Paraneoplastic sensory ganglionopathy

209 Cutis laxa 1

209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy

209010 Peripheral neuropathy associated with monoclonal gammopathy

209013 Acquired amyloid peripheral neuropathy

209016 Hematological disease associated with an acquired peripheral neuropathy 1

209019 Solid tumor associated with an acquired peripheral neuropathy 1

209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase

209027 Qualitative or quantitative defects of protein glycosyltransferase-like

209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1

209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2

209038 Qualitative or quantitative defects of myofibrillar proteins 4

209041 Qualitative or quantitative defects of desmin

209044 Qualitative or quantitative defects of alphaB-cristallin 1

209047 Qualitative or quantitative defects of filamin C

209050 Qualitative or quantitative defects of protein ZASP

209053 Qualitative or quantitative defects of titin

209056 Qualitative or quantitative defects of telethonin

209059 Qualitative or quantitative defects of alpha-actin

209182 Qualitative or quantitative defects of nebulin

209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

209188 Qualitative or quantitative defects of emerin

209193 Qualitative or quantitative defects of selenoprotein N1

209196 Qualitative or quantitative defects of plectin

209199 Qualitative or quantitative defects of protein SERCA1

209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

209224 Qualitative or quantitative defects of myotilin

209978 Alternating hemiplegia

2103 Guillain-Barré syndrome 1

210581 Temporomandibular joint anomaly

210589 Infantile hemangioma of rare localization

211037 Autosomal dominant proximal spinal muscular atrophy

211047 Specific learning disability 1

211053 Specific language disorder

211062 Hereditary episodic ataxia

211237 Rare vascular tumor 3

211240 Genetic vascular anomaly 5

211243 Simple vascular malformation 5

211247 Rare capillary malformation 1

211252 Rare venous malformation

211255 Rare lymphatic system malformation 2

211266 Rare arteriovenous malformation 2

211277 Complex vascular malformation with associated anomalies

2130 Hemimelia

213500 Ovarian cancer 2

213517 Familial ovarian cancer

213564 Rare uterine cancer 2

213569 Rare cancer of corpus uteri 2

213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri

213620 Sarcoma of the corpus uteri

213761 Rare cancer of cervix uteri 2

213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri

213797 Sarcoma of cervix uteri

216 Neuronal ceroid lipofuscinosis

216675 Transposition of the great arteries

217071 Renal cell carcinoma

217074 Rare carcinoma of pancreas

217454 Rare hereditary thrombophilia

217569 Hypertrophic cardiomyopathy 2

217572 Glycogen storage disease with hypertrophic cardiomyopathy

217581 Lysosomal disease with hypertrophic cardiomyopathy

217587 Mitochondrial disease with hypertrophic cardiomyopathy

217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

217595 Syndrome associated with hypertrophic cardiomyopathy

217598 Non-familial hypertrophic cardiomyopathy

217604 Dilated cardiomyopathy 2

217607 Familial dilated cardiomyopathy 5

217610 Neuromuscular disease with dilated cardiomyopathy 1

217613 Mitochondrial disease with dilated cardiomyopathy

217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy

217619 Syndrome associated with dilated cardiomyopathy

217629 Non-familial dilated cardiomyopathy 1

217632 Restrictive cardiomyopathy 2

217635 Familial restrictive cardiomyopathy 1

217638 Lysosomal disease with restrictive cardiomyopathy

217678 Unclassified cardiomyopathy

217720 Non-familial restrictive cardiomyopathy 1

218436 Rare cardiac rhythm disease 2

218439 Non-genetic cardiac rhythm disease

220452 Isolated hereditary giant platelet disorder 1

220489 Rare hereditary hemochromatosis

2207 Familial primary hyperparathyroidism

221109 Cranial neuralgia

221114 Acquired peripheral movement disorder

222628 Hereditary poikiloderma

223713 Mitochondrial oxidative phosphorylation disorder 3

223727 Bone sarcoma

223735 Lymphoma 3

224 Neonatal diabetes mellitus

225681 Lysosomal disease with epilepsy 2

225686 Peroxisomal disease with epilepsy

225689 Amino acid or protein metabolism disease with epilepsy 1

225692 Metal transport or utilization disorder with epilepsy

225696 Energy metabolism disorder with epilepsy 2

225700 Mitochondrial disease with epilepsy 2

225703 Mitochondrial disease with peripheral neuropathy 2

225707 Metabolic neurotransmission anomaly with epilepsy 1

225710 Sterol metabolism disorder with epilepsy

225713 Other metabolic disease with epilepsy

226292 Permanent congenital hypothyroidism 4

226295 Primary congenital hypothyroidism 2

226298 Central congenital hypothyroidism

226310 Peripheral hypothyroidism

227786 Familial flecked retinopathy

228145 Multiple sclerosis variant

228184 Heart-hand syndrome

228215 Genetic dermis elastic tissue disorder 2

228218 Acquired dermis elastic tissue disorder 2

228221 Acquired dermis elastic tissue disorder with decreased elastic tissue

228224 Acquired dermis elastic tissue disorder with increased elastic tissue

228312 Autoimmune hemolytic anemia, cold type

229720 Syndromic agammaglobulinemia

231230 Beta-thalassemia associated with another hemoglobin anomaly

231386 Beta-thalassemia with other manifestations

231413 Variant of Guillain-Barré syndrome 2

231416 Regional variant of Guillain-Barré syndrome

231419 Functional variant of Guillain-Barré syndrome

231637 Rare surgically correctable form of primary aldosteronism

231641 Rare non surgically correctable form of primary aldosteronism 1

232035 Infectious embryofetopathy

232288 Alpha-thalassemia-related diseases

233655 Rare genetic vascular disease 1

2338 Isolated punctate palmoplantar keratoderma 1

235832 Congenital vascular bone syndrome

235936 Familial hyperaldosteronism

238510 Lymphoproliferative syndrome

238517 Hypotonia-cystinuria type 1 syndrome

238536 Congenital secondary polycythemia

238547 Acquired secondary polycythemia

238666 Isolated congenital hypogonadotropic hypogonadism

238696 Transient congenital hypothyroidism due to maternal factor

238699 Transient congenital hypothyroidism due to neonatal factor

240371 Syndromic obesity 1

2415 Rare lymphatic malformation 1

2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 6

2445 Conotruncal heart malformations 2

2447 Congenital mitral malformation 1

2467 Systemic mastocytosis 1

247 Arrhythmogenic right ventricular cardiomyopathy

247239 Non-hereditary degenerative ataxia

247242 Acquired ataxia

247582 Citrin deficiency

247765 X-linked cerebellar ataxia

248095 Primary hypertrophic osteoarthropathy

248293 Rare deficiency anemia 2

248296 Constitutional deficiency anemia 4

248302 Rare acquired deficiency anemia

248308 Rare hemorrhagic disorder 2

248315 Rare hemorrhagic disorder due to a coagulation factors defect 2

248326 Rare hemorrhagic disorder due to a platelet anomaly 2

248347 Rare hemorrhagic disorder due to an acquired platelet anomaly 1

248358 Rare thrombotic disorder due to a coagulation factors defect 2

248361 Rare thrombotic disorder due to a constitutional coagulation factors defect 1

248365 Rare thrombotic disorder due to an acquired coagulation factors defect

248368 Rare thrombotic disorder due to a platelet anomaly 2

248401 Rare thrombotic disorder due to a constitutional platelet anomaly

248404 Rare thrombotic disorder due to an acquired platelet anomaly

250 Frontonasal dysplasia

250165 Genetic polycythemia 1

250908 Rare neoplastic disease 2

251 Multiple epiphyseal dysplasia

251312 Overlapping connective tissue disease

251355 Sickle cell disease associated with an other hemoglobin anomaly

251529 Toxic or drug-related embryofetopathy 1

251535 Maternal disease-related embryofetopathy

251558 Rare tumor of neuroepithelial tissue 6

251561 High-grade astrocytoma

251592 Low-grade astrocytoma

251651 Oligoastrocytic tumor

251668 Glial tumor of neuroepithelial tissue with unknown origin

251852 Embryonal tumor of neuroepithelial tissue 1

251870 Central nervous system primitive neuroectodermal tumor

251896 Choroid plexus tumor

251905 Pineal tumor of neuroepithelial tissue

251924 Neuronal tumor

251934 Mixed neuronal-glial tumor

251995 Primary germ cell tumor of central nervous system

252025 Tumor of meninges 1

252028 Primary melanocytic tumor of central nervous system

252057 Tumor of cranial and spinal nerves 2

252131 Benign peripheral nerve sheath tumor

252190 Inherited nervous system cancer-predisposing syndrome

253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

254 Spondylometaphyseal dysplasia

2542 Isolated anophthalmia-microphthalmia syndrome

254367 Rare lichen planus 2

254370 Rare cutaneous lichen planus

254373 Rare mucosal lichen planus

254685 Gestational trophoblastic disease 1

254746 Pyruvate metabolism disorder

254749 Tricarboxylic acid cycle disorder

254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 3

254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA 1

254788 Maternally-inherited mitochondrial myopathy

254793 Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form

254807 Multiple mitochondrial DNA deletion syndrome 1

254818 Ataxia neuropathy spectrum

254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism

254827 Mitochondrial membrane transport disorder 2

254830 Mitochondrial substrate carrier disorder

254834 Mitochondrial protein import disorder

254837 Unspecified mitochondrial disorder

254843 Exercise intolerance with lactic acidosis

254846 Isolated oxidative phosphorylation complex disorder

254871 Mitochondrial DNA depletion syndrome, hepatocerebral form

255 Dopa-responsive dystonia

261766 Partial deletion of chromosome 1 2

261771 Partial deletion of chromosome 2 2

261776 Partial deletion of chromosome 3 2

261781 Partial deletion of chromosome 4 2

261786 Partial deletion of chromosome 5 2

261791 Partial deletion of chromosome 6 2

261796 Partial deletion of chromosome 7 2

261801 Partial deletion of chromosome 8 2

261806 Partial deletion of chromosome 9 2

261811 Partial deletion of chromosome 10 2

261816 Partial deletion of chromosome 11 2

261821 Partial deletion of the long arm of chromosome 12

261826 Partial deletion of chromosome 16 2

261831 Partial deletion of chromosome 17 2

261836 Partial deletion of chromosome 18 2

261841 Partial deletion of chromosome 19 2

261846 Partial deletion of chromosome 20 2

261857 Partial deletion of the short arm of chromosome 1

261866 Partial deletion of the short arm of chromosome 2 1

261875 Partial deletion of the short arm of chromosome 3

261884 Partial deletion of the short arm of chromosome 4

261893 Partial deletion of the short arm of chromosome 5

261902 Partial deletion of the short arm of chromosome 6

261911 Partial deletion of the short arm of chromosome 7

261920 Partial deletion of the short arm of chromosome 8

261929 Partial deletion of the short arm of chromosome 9

261938 Partial deletion of the short arm of chromosome 10

261947 Partial deletion of the short arm of chromosome 11

261956 Partial deletion of the short arm of chromosome 16

261965 Partial monosomy of the short arm of chromosome 17

261974 Partial deletion of the short arm of chromosome 18

261983 Partial deletion of the short arm of chromosome 19

261992 Partial monosomy of the short arm of chromosome 20

262 Duchenne and Becker muscular dystrophy

262001 Partial deletion of the long arm of chromosome 1

262010 Partial deletion of the long arm of chromosome 2

262019 Partial deletion of the long arm of chromosome 3

262029 Partial deletion of the long arm of chromosome 4

262038 Partial deletion of the long arm of chromosome 5

262047 Partial deletion of the long arm of chromosome 6

262056 Partial deletion of the long arm of chromosome 7

262065 Partial deletion of the long arm of chromosome 8

262074 Partial monosomy of the long arm of chromosome 9

262083 Partial monosomy of the long arm of chromosome 10

262092 Partial deletion of the long arm of chromosome 11

262101 Partial deletion of the long arm of chromosome 13

262110 Partial deletion of the long arm of chromosome 14

262119 Partial deletion of the long arm of chromosome 15

262128 Partial deletion of the long arm of chromosome 16

262137 Partial deletion of the long arm of chromosome 17

262146 Partial deletion of the long arm of chromosome 18

262155 Partial deletion of the long arm of chromosome 19

262164 Partial deletion of the long arm of chromosome 20

262173 Partial deletion of the long arm of chromosome 21

262182 Partial deletion of the long arm of chromosome 22

262191 Partial duplication of chromosome 1 2

262196 Partial duplication of chromosome 2 2

262201 Partial duplication of chromosome 3 2

262206 Partial duplication of chromosome 4 2

262211 Partial trisomy/tetrasomy of chromosome 5 2

262628 Partial duplication of chromosome 6 2

262633 Partial duplication of chromosome 7 2

262638 Partial duplication of chromosome 8 2

262643 Partial trisomy/tetrasomy of chromosome 9 2

262648 Partial duplication of chromosome 10 2

262653 Partial duplication of chromosome 11 2

262658 Partial trisomy/tetrasomy of the short arm of chromosome 12

262672 Partial duplication of chromosome 16 2

262677 Partial duplication of chromosome 17 2

262682 Partial trisomy/tetrasomy of chromosome 18 2

262687 Partial duplication of chromosome 19 2

262692 Partial trisomy of chromosome 20 1

262698 Partial duplication of the short arm of chromosome 2

262707 Partial duplication of the short arm of chromosome 3

262716 Partial duplication of the short arm of chromosome 4

262725 Partial trisomy/tetrasomy of the short arm of chromosome 5

262740 Partial duplication of the short arm of chromosome 6

262749 Partial duplication of the short arm of chromosome 7

262758 Partial duplication of the short arm of chromosome 8

262767 Partial trisomy of the short arm of chromosome 9

262776 Partial duplication of the short arm of chromosome 10

262785 Partial duplication of the short arm of chromosome 11

262794 Partial duplication of the short arm of chromosome 16

262803 Partial duplication of the short arm of chromosome 17

262812 Partial trisomy/tetrasomy of the short arm of chromosome 18

262833 Partial duplication of the long arm of chromosome 1

262842 Partial duplication of the long arm of chromosome 2

262851 Partial duplication of the long arm of chromosome 3

262860 Partial duplication of the long arm of chromosome 4

262869 Partial trisomy of the long arm of chromosome 5

262878 Partial duplication of the long arm of chromosome 6

262887 Partial duplication of the long arm of chromosome 7

262896 Partial duplication of the long arm of chromosome 8

262905 Partial trisomy of the long arm of chromosome 9

262914 Partial duplication of the long arm of chromosome 10

262923 Partial duplication of the long arm of chromosome 11

262932 Partial duplication of the long arm of chromosome 13

262941 Partial duplication of the long arm of chromosome 14

262950 Partial duplication of the long arm of chromosome 15

262959 Partial trisomy of the long arm of chromosome 16

262968 Partial duplication of the long arm of chromosome 17

262977 Partial trisomy of the long arm of chromosome 18

262986 Partial duplication of the long arm of chromosome 19

262995 Partial trisomy of the long arm of chromosome 20

263 Limb-girdle muscular dystrophy 2

263004 Partial duplication of the long arm of chromosome 22

263355 ATR-X-related syndrome 1

263440 Neuroacanthocytosis

263676 Hereditary epidermolysis bullosa associated with ocular features

263708 Complex chromosomal rearrangement

263714 X chromosome number anomaly 2

263717 X chromosome number anomaly with female phenotype 1

263720 X chromosome number anomaly with male phenotype

263723 Polysomy of X chromosome

263726 Partial deletion of chromosome X 2

263731 Partial monosomy of the short arm of chromosome X

263746 Y chromosome number anomaly

263749 X and Y chromosomal anomaly

263756 Partial deletion of the long arm of chromosome X

263768 Partial duplication of chromosome X 2

263775 Partial duplication of the short arm of chromosome X

263783 Partial duplication of the long arm of chromosome X

263793 Uniparental disomy of chromosome X

264431 Partial duplication of the short arm of chromosome 1

264656 Interstitial lung disease specific to childhood 2

264665 Primary interstitial lung disease specific to childhood 3

264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder 1

264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

264694 Interstitial lung disease specific to infancy

264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease 5

264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease 1

264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease

264724 Langerhans cell histiocytosis specific to childhood

264735 Interstitial lung disease specific to adulthood 2

264740 Primary interstitial lung disease specific to adulthood 2

264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease 1

264750 Langerhans cell histiocytosis specific to adulthood

264757 Interstitial lung disease in childhood and adulthood 2

264762 Primary interstitial lung disease in childhood and adulthood 2

264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder

264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder 1

264944 Secondary interstitial lung disease in childhood and adulthood 2

264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease 4

264955 Langerhans cell histiocytosis in childhood and adulthood

264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease

264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis 1

264984 Exposure-related interstitial lung disease 1

264992 Genetic interstitial lung disease 1

268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease

268357 Neural tube closure defect 3

268744 Spina bifida cystica

268817 Cephalocele

268832 Lipoma associated with neurospinal dysraphism

268843 Malformation of the neurenteric canal, spinal cord and column

268926 Midline cerebral malformation

268950 Cerebral cortical dysplasia

269190 Encephaloclastic disorder

269194 Central nervous system cystic malformation 1

269224 Global cerebellar malformation

269523 Syndrome with a cerebellar malformation as major feature 1

269528 Syndrome with microcephaly as major feature 1

269531 Other syndrome with a central nervous system malformation as major feature

269546 Syndrome with a Dandy-Walker malformation as major feature

269550 Genetic non-syndromic central nervous system malformation 4

269553 Genetic cerebral malformation 3

269557 Genetic posterior fossa malformation 2

269560 Genetic cerebellar malformation

269564 Genetic syndrome with a central nervous system malformation as major feature 4

269567 Genetic syndrome with a cerebellar malformation as major feature 1

269570 Genetic syndrome with a Dandy-Walker malformation as major feature

269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 1

271832 Genetic soft tissue tumor

271835 Genetic digestive tract tumor 1

271841 Genetic cardiac tumor

271844 Genetic urogenital tumor

271847 Genetic neuroendocrine tumor 2

271853 Genetic cardiac anomaly

271861 Hereditary ATTR amyloidosis

271870 Rare genetic systemic or rheumatologic disease 6

2749 Oromandibular-limb hypogenesis syndrome

275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 2

275736 Rare hemorrhagic disorder due to a qualitative platelet defect

275742 Genetic infertility 2

275745 Alpha-thalassemia and related diseases 1

275749 Beta-thalassemia and related diseases 2

275752 Sickle cell disease and related diseases 1

275786 Drug- or toxin-induced pulmonary arterial hypertension

275791 Pulmonary arterial hypertension associated with another disease 6

275798 Pulmonary arterial hypertension associated with connective tissue disease

275803 Pulmonary arterial hypertension associated with congenital heart disease

275808 Pulmonary arterial hypertension associated with HIV infection

275813 Pulmonary arterial hypertension associated with portal hypertension

275823 Pulmonary arterial hypertension associated with schistosomiasis

275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia

275837 Pulmonary hypertension owing to lung disease and/or hypoxia

275844 Pulmonary hypertension with unclear multifactorial mechanism

275853 Syndrome with pulmonary hypertension as a major feature

275938 Hemolytic disease due to fetomaternal alloimmunization

276058 Genetic neurodegenerative disease with dementia 5

276061 Genetic frontotemporal degeneration with dementia 1

276142 Rare tumor of salivary glands

276161 Multiple endocrine neoplasia

276525 Familial hyperinsulinism 1

276585 Diazoxide-resistant hyperinsulinism 2

2781 Osteopetrosis

279911 Primary organ-specific lymphoma 1

280400 Inherited prion disease

280886 Anterior uveitis 2

280892 Posterior uveitis 2

280898 Panuveitis 1

280926 Systemic diseases with anterior uveitis

280930 Systemic diseases with posterior uveitis

280933 Systemic diseases with panuveitis

281082 Inherited non-syndromic ichthyosis 3

281085 Inherited ichthyosis syndromic form 2

281097 Autosomal recessive congenital ichthyosis

281103 Keratinopathic ichthyosis

281210 X-linked ichthyosis syndrome

281217 Autosomal ichthyosis syndrome 4

281222 Autosomal ichthyosis syndrome with prominent hair abnormalities

281238 Autosomal ichthyosis syndrome with prominent neurologic signs

281241 Autosomal ichthyosis syndrome with fatal disease course

281244 Autosomal ichthyosis syndrome with other associated signs

282 Frontotemporal dementia

282124 Partial deletion of chromosome 12 2

282196 Autoimmune polyendocrinopathy

284264 IgG4-related disease

284385 Familial intrahepatic cholestasis 1

2846 Congenital pericardium anomaly

284786 Qualitative or quantitative defects of troponin

284790 Qualitative or quantitative defects of tropomyosin

284804 Ocular albinism

284811 Syndromic oculocutaneous albinism

284814 Disorder of phenylalanine metabolism

284818 Disorder of tyrosine metabolism

284993 Marfan and Marfan-related disorder

285014 Rare disease with thoracic aortic aneurysm and aortic dissection

285657 Disorder of folate metabolism and transport

289098 Disorders of vitamin D metabolism 2

289103 Hypocalcemic rickets

289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism

289573 Multiple mitochondrial dysfunctions syndrome

289635 Rare virus associated tumor 2

289638 Epstein-Barr Virus-related tumor 3

289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder 1

289651 Epstein-Barr Virus-associated carcinoma

289656 Epstein-Barr Virus-associated mesenchymal tumor

289829 Disorder of tryptophan metabolism

289832 Disorder of lysine and hydroxylysine metabolism

289841 Disorder of glutamine metabolism

289866 Disorder of proline metabolism 1

289869 Disorder of ornithine metabolism

289899 Organic aciduria 2

289902 3-methylglutaconic aciduria

290836 Systemic disease with skin involvement 3

290839 Autoinflammatory syndrome with immune deficiency 1

290842 Autoinflammatory syndrome with skin involvement 2

290849 Rare head and neck tumor 3

2913 Polydactyly 3

293355 Methylmalonic acidemia without homocystinuria

293642 Blepharophimosis-intellectual disability syndrome

293815 Toxic dermatosis

293830 Constitutional dyserythropoietic anemia 1

294057 Rare nevus

294060 Multiple pterygium syndrome

294925 Amelia

294927 Intercalary limb defects

294944 Congenital deformities of limbs 1

294947 Congenital deformities of fingers

294949 Joint formation defects

294951 Congenital joint dislocations

294953 Limb overgrowth

294955 Syndrome with limb reduction defects

294957 Dysostosis with combined reduction defects of upper and lower limbs

294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 1

294963 Popliteal pterygium syndrome

294965 Lethal congenital contracture syndrome

2982 46,XX disorder of sex development 3

298644 Disorder of thiamine metabolism and transport

300515 Rare nail tumor

300579 Staphylococcal toxemia

300842 Indolent B-cell non-Hodgkin lymphoma 2

300846 Aggressive B-cell non-Hodgkin lymphoma 2

300912 Marginal zone lymphoma

301 Ependymal tumor

303 Dystrophic epidermolysis bullosa

304 Epidermolysis bullosa simplex 2

304055 Pituitary tumor 1

305 Junctional epidermolysis bullosa

306498 PTEN hamartoma tumor syndrome

306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

306519 Familial primary hypomagnesemia with hypocalcuria

306522 Familial primary hypomagnesemia with normocalcuria

306633 Rare tumor of gallbladder and extrahepatic biliary tract 1

306636 Rare tumor of liver and intrahepatic biliary tract 1

306640 Rare intoxication due to medical products

306648 Non-infectious anterior uveitis

306666 Rare parkinsonian syndrome due to neurodegenerative disease

306679 Rare parkinsonian syndrome due to intoxication

306695 Miscellaneous movement disorder due to neurodegenerative disease 4

306708 Frontotemporal neurodegeneration with movement disorder

306712 Rare tremor disorder

306715 Rare choreic movement disorder 2

306719 Neurodegenerative disease with chorea

306727 Postinfectious autoimmune disease with chorea

306747 Rare myoclonus 2

306750 Primary myoclonus

306753 Rare disease with myoclonus as a major feature 1

306756 Epilepsy and/or ataxia with myoclonus as major feature 2

306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature

306765 Motor stereotypies

306768 Rare paroxysmal movement disorder 1

306773 Hyperekplexia

307052 Rare genetic parkinsonian disorder 1

307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease

307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 4

307061 Rare genetic tremor disorder

307064 Rare genetic myoclonus 2

307067 Rare genetic disease with myoclonus as a major feature 1

307141 Diffuse palmoplantar keratoderma 2

307148 Isolated diffuse palmoplantar keratoderma 2

307711 Disease with diffuse palmoplantar keratoderma as a major feature 2

307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma

307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

307837 Focal palmoplantar keratoderma 2

307846 Isolated focal palmoplantar keratoderma

307871 Disease with focal palmoplantar keratoderma as a major feature 2

307967 Punctate palmoplantar keratoderma 2

307995 Marginal papular palmoplantar keratoderma

308023 Disease with punctate palmoplantar keratoderma as a major feature 2

308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

308166 Erythrokeratoderma variabilis progressiva

308407 Disorder of beta and omega amino acid metabolism

308448 Aminoacylase deficiency

308451 Disorder of neutral amino acid transport

308459 Disorder of glycolysis

308463 Disorder of fructose metabolism

308467 Disorder of galactose metabolism 1

308520 Glycogen storage disease due to glycogen synthase deficiency

308993 Glycerol kinase deficiency

308998 Disorder of glyoxylate metabolism

309 Familial partial epilepsy

3090 Congenital pulmonary venous return anomaly

309001 Disorder of carbohydrate absorption and transport 1

309005 Disorder of lipid metabolism 4

309025 Mevalonate kinase deficiency

309028 Disorder of lipid absorption and transport

3091 Congenital systemic veins anomaly 3

309115 Disorder of fatty acid oxidation and ketogenesis 2

309120 Acyl-CoA dehydrogenase deficiency

309127 3-hydroxyacyl-CoA dehydrogenase deficiency

309130 Disorder of carnitine cycle and carnitine transport

309133 Metabolic disease due to other fatty acid oxidation disorder

309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 2

309144 Gangliosidosis 1

309152 GM2 gangliosidosis

309279 Glycoproteinosis 2

309294 Sialidosis

309319 Disorder of sialic acid metabolism

309337 Lysosomal glycogen storage disease

309340 Disorder of lysosomal-related organelles

309347 Disorder of protein N-glycosylation

309447 Disorder of protein O-glycosylation 5

309450 Disorder of O-xylosylglycan synthesis

309458 Disorder of O-N-acetylgalactosaminylglycan synthesis

309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis

309469 Disorder of O-mannosylglycan synthesis

309505 Disorder of fucoglycosan synthesis

309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 1

309526 Disorder of multiple glycosylation 2

309568 Defect in conserved oligomeric Golgi complex

309778 Defect in V-ATPase

309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation 1

309813 Disorder of porphyrin and haem metabolism 2

309816 Disorder of bilirubin metabolism and excretion

309819 Disorder of pterin metabolism

309824 Disorder of metabolite absorption and transport 2

309827 Disorder of vitamin and non-protein cofactor absorption and transport 4

309830 Disorder of catecholamine synthesis

309833 Disorder of other vitamins and cofactors metabolism and transport

309836 Disorder of mineral absorption and transport 5

309839 Disorder of copper metabolism

309842 Disorder of iron metabolism and transport 1

309845 Disorder of zinc metabolism

309848 Disorder of magnesium transport 1

309851 Disorder of manganese transport

310 Reflex epilepsy

310050 Acquired immunodeficiency 1

31153 Hypoalphalipoproteinemia

31154 Hypobetalipoproteinemia

314425 Rare odontogenic tumor

314749 Rare disease with Cushing syndrome as a major feature

314753 Functioning pituitary adenoma 2

314759 Mixed functioning pituitary adenoma

314822 Primary renal tubular acidosis

315350 Autoimmune disease with skin involvement 2

316226 Spastic ataxia 2

316235 Autosomal dominant spastic ataxia

316240 Autosomal recessive spastic ataxia

316244 Partial deletion of the short arm of chromosome 12

31740 Hypersensitivity pneumonitis 1

317416 T-B+ severe combined immunodeficiency

317419 T-B- severe combined immunodeficiency

319328 Inherited renal cancer-predisposing syndrome

319494 Familial nonmedullary thyroid carcinoma

319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

320317 Cleft lip/palate-ectodermal dysplasia syndrome

320332 X-linked pure spastic paraplegia

320335 Pure or complex hereditary spastic paraplegia 3

320342 Pure or complex autosomal dominant spastic paraplegia

320346 Pure or complex autosomal recessive spastic paraplegia

320350 Pure or complex X-linked spastic paraplegia

322126 Genetic tumor of hematopoietic and lymphoid tissues

3231 Deafness-onychodystrophy syndrome

324761 Microcephalic primordial dwarfism

324764 Trichorhinophalangeal syndrome

324767 Non-familial rare disease with dilated cardiomyopathy

324924 Hereditary periodic fever syndrome 2

324927 Pyogenic autoinflammatory syndrome

324930 Granulomatous autoinflammatory syndrome

324933 Mixed autoinflammatory and autoimmune syndrome

324936 Unclassified autoinflammatory syndrome

325055 46,XX disorder of gonadal development

325061 46,XX disorder of sex development induced by fetoplacental androgens excess

325093 46,XX disorder of sex development induced by endogenous maternal-derived androgen

325099 46,XX disorder of sex development induced by exogenous maternal-derived androgen

325109 Syndrome with 46,XX disorder of sex development

325118 46,XY disorder of gonadal development

325351 46,XY disorder of sex development of endocrine origin 3

325357 46,XY disorder of sex development due to impaired androgen production 3

325511 46,XY disorder of sex development due to a cholesterol synthesis defect

325537 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors

325546 Sex chromosome disorder of sex development

325620 Disorder of sex development of gynecological interest 4

325632 46,XY disorder of sex development of gynecological interest 4

325638 Syndrome with disorder of sex development of gynecological interest

325665 Genetic disorder of sex development of gynecological interest 5

325690 Genetic disorder of sex development 3

325697 Genetic 46,XX disorder of sex development 4

325706 Genetic 46,XY disorder of sex development 3

325713 Genetic 46,XY disorder of sex development of endocrine origin 2

3276 Disorder of plasmalogens biosynthesis

3280 Syringomyelia

329303 PLA2G6-associated neurodegeneration

329888 Juvenile idiopathic inflammatory myopathy

330197 Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

331184 Constitutional neutropenia with extra-hematopoietic manifestations

331193 Other immunodeficiency syndromes due to defects in innate immunity

331217 Syndrome with combined immunodeficiency 4

331220 Immunodeficiency due to absence of thymus

331223 Hyper-IgE syndrome

331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells

331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells

331244 Other immunodeficiency syndrome with predominantly antibody defects

331249 Immunodeficiency syndrome with hypopigmentation

3388 Neural tube defect 2

3394 Soft tissue sarcoma

3398 Thymic epithelial neoplasm

3399 Germ cell tumor 2

341 Viral hemorrhagic fever

344 Arbovirus fever

34526 Familial primary hypomagnesemia 3

34533 Corneal dystrophy 4

352 Galactosemia

352298 Genetic muscular channelopathy 1

352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 3

352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 2

352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 1

352456 Mitochondrial DNA maintenance syndrome 2

352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

352728 Disorder of melanin metabolism 2

35656 Coenzyme Q10 deficiency

35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 1

35698 Mitochondrial DNA depletion syndrome 2

35705 Neurometabolic disorder due to serine deficiency 1

357502 Idiopathic nephrotic syndrome

357506 Genetic non-syndromic renal or urinary tract malformation 1

35807 Malignant germ cell tumor of ovary

35808 Malignant sex cord stromal tumor of ovary

359 Hereditary glaucoma 2

35981 Polymicrogyria

36204 Intestinal lymphangiectasia

363189 Congenital anomaly of the great veins 2

363203 Ring chromosome

363245 Genetic progeroid syndrome

363294 Genetic syndromic Pierre Robin syndrome 4

363300 Genetic intractable diarrhea of infancy

363306 Genetic intestinal disease due to fat malabsorption

363314 Genetic intestinal polyposis

363472 Tumor of testis and paratestis 1

363504 Germ cell tumor of testis

363567 Acute encephalopathy with inflammation-mediated status epilepticus

363579 Extragonadal germ cell tumor 2

363582 Gonadal germ cell tumor 2

36388 Paraneoplastic neurologic syndrome 1

364526 Primary bone dysplasia 25

364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

364536 Primary bone dysplasia with micromelia

364541 Otopalatodigital syndrome spectrum disorder

364559 Dysostosis 5

364568 Dysostosis with limb anomaly as a major feature 11

364571 Dysostosis with limb and face anomalies as a major feature 2

364574 Acrofacial dysostosis

364803 Rare bone disease related to a common gene or pathway defect 9

364817 Aggrecan-related bone disorder

364820 TRPV4-related bone disorder

365563 Primary short bowel syndrome

369886 Homozygous 2p21 microdeletion syndrome 1

370 Glycogen storage disease due to phosphorylase kinase deficiency

370068 Fetal anticonvulsant syndrome

370106 Rare disorder with dystonia and other neurologic or systemic manifestation

370933 GM3 synthase deficiency

370953 Congenital muscular dystrophy due to dystroglycanopathy 1

371024 Qualitative or quantitative defects of alpha-dystroglycan 2

371040 Primary qualitative or quantitative defects of alpha-dystroglycan

371047 Congenital disorder of glycosylation with neurological involvement 3

371054 X-linked congenital disorder of glycosylation with intellectual disability as a major feature

371064 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature 1

371071 Congenital disorder of glycosylation with epilepsy as a major feature 1

371157 Congenital disorder of glycosylation with hepatic involvement

371176 Congenital disorder of glycosylation with dilated cardiomyopathy

371183 Congenital disorder of glycosylation with cardiac malformation as a major feature

371188 Congenital disorder of glycosylation with intestinal involvement

371195 Congenital disorder of glycosylation-related bone disorder

371200 Congenital disorder of glycosylation with skin involvement 1

371207 Congenital disorder of glycosylation with nephropathy as a major feature

371212 Congenital disorder of glycosylation with deafness as a major feature

371235 Congenital disorder of glycosylation with developmental anomaly 3

371433 Genetic periodic paralysis

371436 Genetic neurovascular malformation

371442 Sphingolipidosis with epilepsy 1

371445 Genetic syndromic esophageal malformation

371861 Genetic hyperaldosteronism 1

376724 Generalized isolated dystonia

385 Neurodegeneration with brain iron accumulation 1

389 Langerhans cell histiocytosis

391381 Disorder of asparagine metabolism

391711 Persistent combined dystonia 1

391799 Rare genetic dystonia 3

397802 T+ B+ severe combined immunodeficiency

398043 Malignant tumor of penis

398091 Secondary neonatal autoimmune disease

398934 Malignant epithelial tumor of ovary

398940 Malignant non-epithelial tumor of ovary 3

399158 Osteonecrosis 2

399164 Avascular necrosis 2

399169 Secondary avascular necrosis 1

399185 Rare hereditary disease with avascular necrosis 1

399302 Primary avascular necrosis

399319 Osteochondrosis

399380 Osteonecrosis of genetic origin 2

399388 Avascular necrosis of genetic origin 1

399391 Osteochondrosis of genetic origin

399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 3

399584 Rare male infertility due to adrenal disorder 2

399685 Rare male infertility due to testicular endocrine disorder 2

399764 Male infertility due to gonadal dysgenesis or sperm disorder 2

399771 Male infertility due to sperm disorder 2

399775 Male infertility with spermatogenesis disorder 1

399786 Male infertility with spermatogenesis disorder due to single gene mutation

399813 Male infertility due to sperm motility disorder

399824 Rare disorder with obstructive azoospermia

399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder 3

399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 3

399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

399849 Rare female infertility due to an adrenal disorder 2

399853 Rare female infertility due to an anomaly of ovarian function

399877 Rare female infertility due to gonadal dysgenesis

399882 Rare female infertility due to an implantation defect 1

399980 Rare genetic male infertility 3

399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 3

399994 Rare male infertility due to adrenal disorder of genetic origin

399998 Male infertility due to obstructive azoospermia of genetic origin 1

400003 Rare genetic disorder with obstructive azoospermia

400008 Rare genetic female infertility 4

400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 3

400018 Rare female infertility due to adrenal disorder of genetic origin

400022 Rare female infertility due to an anomaly of ovarian function of genetic origin

400025 Female infertility due to an implantation defect of genetic origin

401854 Lipoic acid biosynthesis defect 1

401993 Cold-induced sweating syndrome-hyperthermia spectrum

402007 Lichen myxedematosus 1

402029 Primary eosinophilic gastrointestinal disease

404469 Rare female infertility due to oocyte maturation

404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

404538 X-linked distal hereditary motor neuropathy

404568 Dysostosis of genetic origin 5

404571 Dysostosis of genetic origin with limb anomaly as a major feature 11

404574 Genetic syndrome with limb reduction defects

404577 Genetic syndrome with limb malformations as a major feature 8

404580 Polyarticular juvenile idiopathic arthritis

404584 Rare genetic bone development disorder 2

414726 Genetic facial cleft 1

418 Congenital adrenal hyperplasia

420755 Rare genetic odontal or periodontal disorder 1

422519 3-Phosphoglycerate dehydrogenase deficiency

423655 ARX-related encephalopathy-brain malformation spectrum

423662 Rare autonomic nervous system disorder

423771 Rare carcinoma of stomach 1

423776 Hereditary gastric cancer

423793 Rare tumor of small intestine 2

423798 Mesenchymal tumor of small intestine

423957 Rare carcinoma of small intestine

423975 Neuroendocrine tumor of the small intestine 1

423982 Epithelial tumor of the appendix

423991 Rare epithelial tumor of colon

423998 Rare epithelial tumor of rectum

424010 Epithelial tumor of anal canal 1

424013 Carcinoma of the anal canal

424033 Rare epithelial tumor of pancreas 2

424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1

424933 Rare epithelial tumor of liver and intrahepatic biliary tract 1

424936 Carcinoma of liver and intrahepatic biliary tract

425003 Inherited digestive cancer-predisposing syndrome 2

425368 Rare epithelial tumor of small intestine 2

42738 Severe congenital neutropenia

431156 Primary immunodeficiency with predisposition to severe viral infection

431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

434786 Rare genetic autonomic nervous system disorder

434809 Syndrome with woolly hair

435365 Fetal lower urinary tract obstruction

435554 Genetic precocious puberty 1

435561 Precocious puberty in female

435564 Genetic precocious puberty in female

435603 Genetic otorhinolaryngological malformation 4

435606 Genetic nose and cavum anomaly

435609 Genetic larynx anomaly

435612 Genetic tracheal anomaly

435743 Congenital urachal anomaly

437 Hypophosphatemic rickets

438072 Disorder of keton body transport

439246 ABeta2M amyloidosis

440701 Disorders of pentose/polyol metabolism 1

441434 Syndromic hereditary optic neuropathy 2

442 Congenital hypothyroidism 2

443090 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

443095 Hyperinsulinemic hypoglycaemia 1

443287 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor

443909 Hereditary nonpolyposis colon cancer

444116 Hereditary amyloidosis 1

444916 Pseudohypoaldosteronism

444941 Caudal regression-sirenomelia spectrum

445197 Secondary vasculitis

447771 Sclerosing cholangitis

447874 Biological anomaly without phenotypic characterization

447985 Partial duplication of the short arm of chromosome 19

448 Hemophilia

448426 Genetic primary orthostatic hypotension

450 Heterotaxia

457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy

457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy

457074 Congenital nemaline myopathy

458775 Congenital hemangioma

458827 Vascular tumor with associated anomalies

458830 Rare capillary malformation with associated anomalies

458833 Common cystic lymphatic malformation

458837 Rare combined vascular malformation

458841 Primary lymphedema with associated anomalies

458844 Rare vascular malformation of major vessels 2

459345 Immunodeficiency due to a complement cascade component deficiency

459348 Immunodeficiency due to a complement regulatory deficiency

459526 Rare genetic capillary malformation 1

459530 Genetic primary lymphedema

459537 Genetic complex vascular malformation with associated anomalies

459543 Rare genetic vascular tumor

459548 Rare genetic venous malformation

459787 Lethal multiple congenital anomalies/dysmorphic syndrome

464764 Immune-mediated acquired neuromuscular junction disease

46484 Oligodendroglial tumor

46485 Superficial pemphigus

466066 Genetic hemoglobinopathy 3

466084 Genetic otorhinolaryngologic disease 2

466658 Rare disease with malignant hyperthermia

467 Non-acquired combined pituitary hormone deficiency 2

471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome

474347 Congenital anomaly of ventricular septum

476109 Axonal hereditary motor and sensory neuropathy 2

476116 Demyelinating hereditary motor and sensory neuropathy 2

476123 Intermediate Charcot-Marie-Tooth disease 2

476403 Hypercontractile muscle stiffness syndrome

477647 Type 1 interferonopathy

477754 Genetic cerebral small vessel disease 2

477759 COL4A1 or COL4A2-related cerebral small vessel disease 2

477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy

477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

477768 Moyomoya angiopathy 1

477771 Moyamoya syndrome

477794 Syndromic constitutional thrombocytopenia 1

477797 Isolated constitutional thrombocytopenia 1

477805 Genetic cardiac malformation

477808 Other genetic dermis disorder 1

477811 Rare hypercholesterolemia

480549 Non-severe combined immunodeficiency

481771 Genetic alopecia

482072 HTRA1-related cerebral small vessel disease

482092 Rare idiopathic macular telangiectasia

48471 Lissencephaly 5

485382 Genetic non-acquired premature ovarian failure

485631 Congenital bile acid synthesis defect

494418 Vulvar carcinoma

494457 Rare hyperkinetic movement disorder 5

496916 Rare genetic hyperkinetic movement disorder 5

496924 Non-inflammatory vasculopathy 1

497623 C12ORF65-related combined oxidative phosphorylation defect

498 Keratosis pilaris atrophicans

498445 Genetic inflammatory/rheumatoid-like osteoarthropathies

498448 Overgrowth/tall stature syndromes with skeletal involvement

498451 Dysostosis with brachydactyly without extraskeletal manifestations

498454 Dysostosis with brachydactyly with extraskeletal manifestations

498457 Longitudinal limb defects 1

498461 Terminal transverse limb defects 2

498464 Non-syndromic preaxial polydactyly

498467 Non-syndromic postaxial polydactyly

498470 Non-syndromic complex polydactyly

498477 Ectrodactyly with and without other manifestations

498491 Complete hemimelia

506 Leigh syndrome

513 Acute lymphoblastic leukemia

51577 Cobblestone lissencephaly 1

519 Acute myeloid leukemia 4

52662 Rare teratologic disease 3

52688 Myelodysplastic syndrome 1

52759 Vasculitis 4

535 Rare cutaneous lupus erythematosus 1

53739 Distal hereditary motor neuropathy 3

541 Primary cutaneous CD30+ T-cell lymphoproliferative disease

542 Primary cutaneous lymphoma 2

544 Diffuse large B-cell lymphoma

547 Non-Hodgkin lymphoma 3

55 Oculocutaneous albinism

553 Cushing syndrome 3

56044 Carcinoma of gallbladder and extrahepatic biliary tract

56970 Human prion disease 1

57146 Rare hepatic disease 5

593 Myofibrillar myopathy 1

59305 Gestational trophoblastic neoplasm

595 Centronuclear myopathy

599 Distal myopathy 2

607 Nemaline myopathy

612 Potassium-aggravated myotonia

63443 Rare epithelial tumor of stomach 1

63454 Patterned dystrophy of the retinal pigment epithelium

64746 Autosomal dominant Charcot-Marie-Tooth disease type 2

64747 X-linked Charcot-Marie-Tooth disease

64749 Charcot-Marie-Tooth disease type 4

657 Congenital isolated hyperinsulinism 2

65753 Charcot-Marie-Tooth disease type 1

658 Non-histaminic angioedema

66646 Cutaneous mastocytosis

671 Primary cutis verticis gyrata

68329 Rare maxillo-facial surgical disease 9

68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect 2

68335 Chromosomal anomaly 3

68336 Rare genetic tumor 11

68341 Multiple congenital anomalies/dysmorphic syndrome 4

68346 Rare genetic skin disease 12

68347 Tumor of hematopoietic and lymphoid tissues 3

68354 Sleep disorder

68356 Leukodystrophy 2

68361 Rare deafness 1

68362 Rare vascular disease 2

68363 Rare dystonia 3

68364 Hemoglobinopathy 3

68366 Lysosomal disease 7

68367 Rare inborn errors of metabolism 13

68373 Peroxisomal disease 3

68378 Congenital limb malformation 2

68380 Mitochondrial disease 5

68381 Neuromuscular disease 4

68383 Rare constitutional aplastic anemia

68385 Neurometabolic disease 14

68402 Rare parkinsonian disorder 2

68411 Rare bone tumor 1

68415 Rare parathyroid disease and phosphocalcic metabolism anomaly 4

68416 Rare infectious disease 5

68419 Vascular anomaly or angioma 5

685 Hereditary spastic paraplegia 3

69 Amyloidosis 2

69028 Syndrome with brachydactyly 2

70482 Carcinoma of esophagus

71198 Rare pulmonary hypertension 5

71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly 2

71203 Autoimmune thrombocytopenia

71209 Rare soft tissue tumor 1

71281 Rare central nervous system and retinal vascular disease 4

717 Catecholamine-producing tumor

71859 Rare genetic neurological disorder 18

71862 Retinal dystrophy 3

71864 Muscular channelopathy 1

73014 Intractable diarrhea of infancy

73217 Müllerian aplasia 2

73220 X-linked intellectual disability-hypotonic face syndrome

738 Porphyria 2

748 Mendelian susceptibility to mycobacterial diseases 3

75110 Myiasis 1

754 Androgen insensitivity syndrome

77 Aniridia 1

77240 Primary lymphedema 1

77828 Genetic obesity 2

77830 Rare genetic odontologic disease 3

79062 Disorder of amino acid and other organic acid metabolism 17

79088 Localized lipodystrophy

79158 Cerebral organic aciduria 2

79161 Disorder of carbohydrate metabolism 9

79163 Classic organic aciduria 3

79166 Disorder of amino acid absorption and transport 2

79167 Disorder of urea cycle metabolism and ammonia detoxification 1

79168 Disorder of bile acid synthesis 1

79169 Disorder of neurotransmitter metabolism and transport 2

79171 Disorder of cobalamin metabolism and transport

79172 Creatine deficiency syndrome

79173 Disorder of methionine cycle and sulfur amino acid metabolism

79174 Disorder of fatty acid oxidation and ketone body metabolism 5

79175 Disorder of gamma-aminobutyric acid metabolism

79177 Gluconeogenesis disorder

79178 Glucose transport disorder

79179 Disorder of glycerol metabolism 1

79181 Disorder of histidine metabolism

79183 Disorder of ketolysis

79185 Disorder of ornithine or proline metabolism 2

79186 Disorder of pentose phosphate metabolism

79187 Disorder of peptide metabolism

79188 Peroxisomal beta-oxidation disorder

79189 Peroxisome biogenesis disorder

79190 Disorder of phenylalanin or tyrosine metabolism 2

79191 Disorder of purine metabolism 1

79192 Disorder of pyridoxine metabolism

79193 Disorder of pyrimidine metabolism

79194 Disorder of serine or glycine metabolism 1

79195 Sterol biosynthesis disorder 1

79196 Disorder of the gamma-glutamyl cycle

79197 Disorder of branched-chain amino acid metabolism

79200 Disorder of energy metabolism 5

79201 Glycogen storage disease 2

79204 Lipid storage disease

79207 Disorder of lysosomal amino acid transport

79211 Combined hyperlipidemia

79212 Mucolipidosis

79213 Mucopolysaccharidosis

79214 Disorder of biogenic amine metabolism and transport 4

79215 Oligosaccharidosis 1

79217 Other metabolic disease with skin involvement 1

79219 Metabolic disease involving other neurotransmitter deficiency

79224 Disorder of purine or pyrimidine metabolism 2

79225 Sphingolipidosis 2

79226 Sterol metabolism disorder 2

79298 Diazoxide-resistant focal hyperinsulinism

79353 Epidermal disease 9

79354 Ichthyosis 1

79355 Erythrokeratoderma 1

79356 Acrokeratoderma

79357 Hereditary palmoplantar keratoderma 3

79358 Porokeratosis

79359 Other epidermal disorder 1

79360 Other genetic epidermal disease 1

79361 Inherited epidermolysis bullosa 3

79362 Epidermal appendage anomaly 4

79363 Hair anomaly 4

79364 Alopecia

79365 Hypertrichosis

79366 Isolated hair shaft abnormality

79367 Syndromic hair shaft abnormality 1

79368 Nail anomaly 2

79369 Isolated nail anomaly

79370 Syndromic nail anomaly 1

79372 Sebaceous gland anomaly

79373 Ectodermal dysplasia syndrome 4

79374 Pigmentation anomaly of the skin 2

79375 Hyperpigmentation of the skin

79376 Hypopigmentation of the skin 2

79377 Dermis disorder 4

79378 Dermis elastic tissue disorder 2

79379 Skin vascular disease

79380 Mixed dermis disorder

79381 Other dermis disorder 4

79382 Subcutaneous tissue disease 1

79383 Lymphedema 2

79384 Rare urticaria

79385 Unclassified genetic skin disorder

79386 Rare skin tumor or hamartoma 5

79387 Metabolic disease with skin involvement 5

79388 Mucopolysaccharidosis with skin involvement

79389 Premature aging

79390 Rare photodermatosis 1

79391 Immune deficiency with skin involvement

795 Rare form of salmonellosis

79669 Autoimmune bullous skin disease 1

801 Scleroderma

817 Peeling skin syndrome

823 Isolated spina bifida 1

83001 Urogenital tract malformation 2

85 Congenital dyserythropoietic anemia

85102 Perineurioma

86795 Localized lichen myxedematosus

86823 Lissencephaly with cerebellar hypoplasia

86836 Refractory cytopenia with multilineage dysplasia

86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome

86851 Acute leukemia of ambiguous lineage

87277 Rare intellectual disability 1

877 Neuroendocrine tumor 2

88632 Anterior segment dysgenesis

88991 Congenital non-syndromic heart malformation 10

88993 Esophageal malformation 3

89043 Rare dementia 6

89826 Rare skin disease 17

89832 Syndromic lymphedema

90025 Syndactyly

90061 Non-infectious posterior uveitis

90077 Other acquired skin disease 1

90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease

90350 Autosomal recessive cutis laxa type 2

90642 Syndromic genetic deafness 3

90692 Rare endocrine growth disease 7

90771 Disorder of sex development 3

90776 46,XX disorder of sex development induced by fetal androgens excess

90783 46,XY disorder of sex development due to a testosterone synthesis defect 3

90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

90787 46,XY disorder of sex development due to testicular steroidogenesis defect

90970 Primary lipodystrophy 2

91024 Autosomal recessive axonal hereditary motor and sensory neuropathy

91088 Other metabolic disease

91137 Immunotactoid or fibrillary glomerulopathy

91144 46,XX disorder of sex development induced by maternal-derived androgen 2

91357 Duplication of the esophagus

92 Juvenile idiopathic arthritis 1

93419 Rare bone disease 6

93420 FGFR3-related chondrodysplasia

93421 Type 2 collagen-related bone disorder

93422 Type 11 collagen-related bone disorder

93423 Sulfation-related bone disorder

93424 Perlecan-related bone disorder

93425 Filamin-related bone disorder 1

93426 Short rib dysplasia 1

93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 1

93430 Multiple metaphyseal dysplasia

93434 Spondylodysplastic dysplasia 1

93436 Acromelic dysplasia 2

93437 Acromesomelic dysplasia

93438 Mesomelic and rhizo-mesomelic dysplasia

93439 Bent bone dysplasia

93440 Slender bone dysplasia

93441 Primary bone dysplasia with multiple joint dislocations

93442 Chondrodysplasia punctata 1

93443 Neonatal osteosclerotic dysplasia

93444 Primary bone dysplasia with increased bone density 3

93446 Primary bone dysplasia with decreased bone density 1

93447 Primary bone dysplasia with defective bone mineralization 1

93448 Lysosomal storage disease with skeletal involvement

93449 Primary osteolysis

93450 Primary bone dysplasia with disorganized development of skeletal components

93451 Cleidocranial dysplasia and isolated cranial ossification defect

93453 Dysostosis with predominant craniofacial involvement 3

93454 Dysostosis with predominant vertebral and costal involvement

93455 Patellar dysostosis

93457 Non-syndromic limb reduction defect 3

93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 2

93459 Syndrome with synostosis or other joint formation defect 1

93460 Overgrowth syndrome 2

93461 Chromosomal disease with overgrowth

93465 Lethal chondrodysplasia

93545 Renal or urinary tract malformation 2

93546 Non-syndromic renal or urinary tract malformation 2

93547 Syndromic renal or urinary tract malformation

93548 Glomerular disease 3

93550 Basement membrane disease

93551 Secondary glomerular disease 1

93573 Thrombotic microangiopathy

93587 Familial cystic renal disease

93593 Nephropathy secondary to a storage or other metabolic disease 4

93603 Rare renal tubular disease 6

93614 Hematological disorder with renal involvement

93618 Rare cause of hypertension 1

93619 Rare renal tumor 1

93626 Rare renal disease 10

93665 Autoinflammatory syndrome 6

93890 Rare developmental defect during embryogenesis 28

94 Astrocytoma 2

94075 Severe immune-mediated enteropathy

94145 Autosomal dominant cerebellar ataxia type I

94148 Autosomal dominant cerebellar ataxia type III

94149 Autosomal dominant cerebellar ataxia type IV

946 Acrocephalosyndactyly

95157 Acute hepatic porphyria

95161 Chronic hepatic porphyria

95432 Primary progressive aphasia

95463 Anomaly of the tricuspid subvalvular apparatus

95464 Congenital mitral valve insufficiency and/or stenosis

95483 Univentricular cardiopathy 1

95485 Arterial duct anomaly

95488 Non-acquired pituitary hormone deficiency 2

95493 Abnormal origin or aberrant course of coronary artery

95495 Disease associated with non-acquired combined pituitary hormone deficiency

95498 Congenital anomaly of superior vena cava

95499 Congenital anomaly of the inferior vena cava

95500 Congenital anomaly of the coronary sinus

95502 Acquired pituitary hormone deficiency 6

95503 Pituitary hormone deficiency from tumoral origin 1

95505 Pituitary hormone deficiency from meningeal origin

95506 Primary hypophysitis

95510 Atrial appendage anomaly

95611 Pituitary hormone defiency from vascular origin

95617 Pituitary hormone deficiency secondary to a granulomatous disease

95618 Pituitary hormone deficiency secondary to storage disease

95708 Precocious puberty 1

95709 Acquired premature ovarian failure

95710 Non-acquired premature ovarian failure

95711 Congenital hypothyroidism due to developmental anomaly

95714 Primary congenital hypothyroidism without thyroid developmental anomaly

95718 Congenital thyroid malformation without hypothyroidism

96256 Somatotropic adenoma

96321 Polyploidy

96325 Isochromosome Y

96333 Rare otorhinolaryngological malformation 7

96344 Rare gynecologic or obstetric disease 8

96346 Anorectal malformation 1

97120 Distal arthrogryposis

97242 Congenital muscular dystrophy 1

97245 Congenital myopathy 3

97253 Pancreatic neuroendocrine tumor

97275 Encephalitis 4

97293 Rare benign ovarian tumor

97556 Congenital and infantile nephrotic syndrome

97593 Pseudohypoparathyroidism 2

97929 Rare cardiac disease 3

97935 Rare gastroenterologic disease 6

97944 Gastroduodenal malformation 2

97945 Intestinal malformation 2

97955 Rare respiratory disease 4

97957 Respiratory or thoracic malformation 2

97962 Rare surgical thoracic disease 5

97965 Rare surgical cardiac disease 2

97966 Rare eye disease 3

97978 Rare endocrine disease 14

97992 Rare hematologic disease 4

98004 Rare immune disease 3

98006 Rare neurologic disease 25

98010 Infectious disease of the nervous system 3

98022 Rare headache 1

98023 Rare systemic or rheumatologic disease 4

98026 Rare odontologic disease 4

98027 Rare disease with odontological manifestation 2

98028 Rare circulatory system disease 3

98033 Rare neurologic disease with psychiatric involvement 2

98036 Rare otorhinolaryngologic disease 4

98038 Cranial malformation 1

98039 Digestive tract malformation 4

98041 Visceral malformation of the liver, biliary tract, pancreas or spleen 2

98043 Diaphragmatic or abdominal wall malformation 2

98044 Central nervous system malformation 2

98045 Respiratory or mediastinal malformation 2

98047 Rare infertility 2

98048 Rare male infertility 3

98049 Rare female infertility 5

98050 Rare allergic disease 3

98052 Rare allergic respiratory disease 1

98053 Rare genetic disease 25

98054 Rare genetic cardiac disease 7

98056 Rare genetic renal disease 8

98057 Rare tumor 19

98058 Rare urinary tract tumor

98059 Rare digestive tumor 5

98060 Rare respiratory tumor 1

98061 Rare otorhinolaryngologic tumor

98062 Rare nervous system tumor 4

98063 Rare gynecological tumor 5

98074 Gonadal dysgenesis of gynecological interest

98078 46,XX disorder of sex development induced by androgens excess 3

98085 46,XY disorder of sex development 3

98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

98087 Syndrome with 46,XY disorder of sex development

98095 Autosomal recessive congenital cerebellar ataxia 1

98096 Autosomal recessive metabolic cerebellar ataxia

98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect

98098 Autosomal recessive degenerative and progressive cerebellar ataxia

98099 Autosomal recessive syndromic cerebellar ataxia

98127 Autosomal anomaly 4

98130 Autosomal trisomy 2

98131 Total autosomal trisomy

98132 Partial autosomal trisomy/tetrasomy 21

98141 Total autosomal monosomy

98142 Partial autosomal monosomy 22

98152 Autosomal uniparental disomy 2

98153 Uniparental disomy of maternal origin

98154 Uniparental disomy of paternal origin

98155 Gonosome anomaly 2

98156 Gonosome number anomaly 3

98157 Gonosome structural anomaly 2

98158 Chromosome Y structural anomaly 1

98159 Chromosome X structural anomaly 3

98196 Malformation syndrome with hamartosis 1

982 Pulmonary valve agenesis

98203 Combined dystonia 2

98249 Ehlers-Danlos syndrome

98252 Infectious encephalitis

98253 Postinfectious encephalitis

98255 Chronic encephalitis

98257 Neonatal epilepsy syndrome

98258 Infantile epilepsy syndrome 1

98259 Childhood-onset epilepsy syndrome 4

98260 Adolescent-onset epilepsy syndrome 3

98261 Progressive myoclonic epilepsy

98267 Genetic non-syndromic obesity 1

98274 Myeloproliferative neoplasm 1

98275 Myelodysplastic/myeloproliferative disease

98277 Acute myeloid leukemia with recurrent genetic anomaly

98282 Plasma cell tumor

98287 Histiocytic and dendritic cell tumor 2

98288 Macrophage or histiocytic tumor

98289 Dendritic cell tumor 1

98290 Immunodeficiency-associated lymphoproliferative disease 1

98291 Lymphoproliferative disease associated with primary immune disease

98292 Mastocytosis 2

98293 Hodgkin lymphoma

98300 Idiopathic interstitial pneumonia

98305 Genetic lipodystrophy 1

98306 Familial partial lipodystrophy

98307 Acquired lipodystrophy 1

98313 Male infertility due to gonadal dysgenesis

98343 Male infertility due to obstructive azoospermia 1

98349 Autosomal dominant isolated diffuse palmoplantar keratoderma

98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 1

98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

98356 Autosomal recessive isolated diffuse palmoplantar keratoderma

98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

98360 Constitutional anemia due to iron metabolism disorder

98362 Constitutional sideroblastic anemia

98363 Rare hemolytic anemia 2

98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 2

98365 Hereditary stomatocytosis

98366 Constitutional hemolytic anemia due to acanthocytosis

98369 Rare constitutional hemolytic anemia due to an enzyme disorder 3

98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

98372 Hemolytic anemia due to a disorder of glycolytic enzymes

98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder

98375 Autoimmune hemolytic anemia 1

98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder

98408 Constitutional megaloblastic anemia due to folate metabolism disorder

98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 1

98421 Red cell aplasia

98427 Polycythemia 1

98428 Secondary polycythemia 2

98429 Rare coagulation disorder 2

98455 Alpha granule disease

98456 Dense granule disease

98464 X-linked syndromic intellectual disability 5

98472 Skeletal muscle disease 2

98473 Muscular dystrophy 2

98482 Idiopathic inflammatory myopathy 1

98486 Metabolic myopathy 2

98491 Neuromuscular junction disease 2

98494 Acquired neuromuscular junction disease 1

98495 Genetic neuromuscular junction disease

98496 Rare peripheral neuropathy 2

98497 Genetic peripheral neuropathy 5

98503 Motor neuron disease 2

98505 Genetic motor neuron disease 3

98506 Acquired motor neuron disease

98514 Malformation of the cerebellar vermis

98516 Malformation of the cerebellar hemispheres

98518 Cranial nerve and nuclear aplasia

98519 Posterior fossa malformation 3

98520 Cystic malformation of the posterior fossa

98523 Non-syndromic pontocerebellar hypoplasia

98534 Neurodegenerative disease with dementia 6

98535 Frontotemporal degeneration with dementia 1

98538 Ataxia with dementia 2

98539 Early-onset ataxia with dementia 1

98540 Late-onset ataxia with dementia 1

98542 Infectious disease with dementia

98543 Metabolic disease with dementia 2

98544 Cerebral lipidosis with dementia

98549 Rare cerebrovascular dementia

98553 Developmental defect of the eye 4

98554 Major induction processes eye anomaly 2

98555 Anophthalmia-microphthalmia syndrome 2

98557 Syndromic aniridia

98558 Rare eye disease due to a differentiation anomaly 2

98559 Rare palpebral, lacrimal system and conjunctival disease 3

98560 Rare palpebral disease 6

98561 Eyelid malformation 3

98562 Cryptophthalmia

98563 Microblepharon-ablephara syndrome

98564 Eyelid border anomaly 2

98565 Syndromic ankyloblepharon

98566 Syndromic palpebral coloboma

98567 Eyelids malposition disorder 3

98568 Congenital entropion 3

98569 Secondary entropion

98570 Congenital ectropion

98571 Secondary ectropion

98572 Canthal anomaly 3

98573 Epicanthal fold 1

98574 Syndromic epicanthus

98575 Telecanthus

98576 Malposition of external canthus

98577 Kinetic eyelid anomaly 2

98578 Rare disorder with ptosis 1

98579 Congenital upper palpebral retraction

98580 Palpebral tumor 8

98581 Palpebral epidermal tumor 3

98582 Benign tumor of palpebral epidermis

98583 Precancerous lesion of palpebral epidermis

98584 Malignant tumor of palpebral epidermis

98585 Palpebral sebaceous gland tumor

98586 Pigmented palpebral tumor 2

98587 Palpebral lentiginosis

98588 Palpebral nevus

98590 Palpebral piliary tumor

98591 Mesenchymatous palpebral tumor

98592 Palpebral tumor with a vascular malformation

98594 Rare eyebrow/eyelashes anomaly 7

98595 Eyebrow/eyelashes hypertrichosis

98596 Eyebrow hypertrophy

98597 Eyelashes hypertrophy

98598 Congenital absence of the eyebrow/eyelashes

98599 Eyebrow/eyelashes structural anomaly

98600 Eyebrow/eyelashes distichiasis

98601 Eyebrow/eyelashes pigmentation anomaly

98602 Rare lacrimal system disease 3

98603 Secretory apparatus of the lacrimal system anomaly 1

98604 Congenital alacrima

98605 Excretory apparatus of the lacrimal system anomaly

98608 Anomaly of the secretory and excretory apparatus of the lacrimal system 1

98609 EEC syndrome and related syndrome

98610 Rare conjunctival disease 3

98611 Conjunctival vascular anomaly 3

98612 Conjunctival hemangioma or hemolymphangioma

98613 Conjunctival telangiectasia

98614 Conjunctival lymphangiectasia

98615 Pigmented conjunctival lesion

98616 Conjunctival tumor 1

98617 Bulbar conjunctival dermoid or conjunctival dermolipoma

98618 Rare refraction anomaly 2

98620 Syndromic myopia

98621 Rare hyperopia and astigmatism 1

98622 Syndromic hyperopia

98623 Syndromic keratoconus

98625 Superficial corneal dystrophy

98626 Stromal corneal dystrophy

98627 Posterior corneal dystrophy

98628 Syndromic corneal dystrophy

98631 Secondary dysgenetic glaucoma 2

98632 Glaucoma associated with neural crest cell migration anomaly 4

98633 Goniodysgenesis

98634 Iridogoniodysgenesis 1

98635 Corneogoniodysgenesis

98636 Corneoiridogoniodysgenesis

98637 Secondary glaucoma due to a proliferation and differentiation anomaly

98638 Rare disease with glaucoma as a major feature 1

98639 Lens and zonula anomaly 4

98640 Rare cataract 1

98641 Syndromic cataract 3

98642 Chromosomal anomaly with cataract

98643 Systemic disease with cataract 7

98644 Cataract associated with a metabolic disease 1

98645 Cerebral disease with cataract

98646 Renal disease with cataract

98647 Cardiac disease with cataract

98648 Musculoskeletal disease with cataract 1

98649 Dentocutaneous disease with cataract

98650 Craniofacial anomaly with cataract

98652 Lens size anomaly

98653 Lens position anomaly

98655 Lens shape anomaly

98657 Genetic vitreous-retinal disease 4

98658 Color-vision disease

98661 Syndromic retinitis pigmentosa

98662 Unclassified familial retinal dystrophy

98664 Genetic macular dystrophy 4

98665 Colobomatous and areolar dystrophy

98666 Unclassified primitive or secondary maculopathy 2

98667 Disease predisposing to age-related macular degeneration

98668 Vitreoretinopathy 2

98669 Congenital vitreoretinal dysplasia

98670 Vitreoretinal degeneration

98671 Hereditary optic neuropathy 3

98672 Autosomal dominant optic atrophy

98681 Rare strabismus and restriction syndrome 1

98683 Syndrome with a symptomatic strabismus 2

98684 Craniostenosis associated with a strabismus

98685 Oculomotor palsy 2

98687 Supranuclear oculomotor palsy 1

98688 Oculomotor apraxia or related oculomotor disease

98689 Myopathy with eye involvement 1

98690 Myasthenic syndrome with eye involvement

98691 Abnormal eye movements

98692 Nervous system anomaly with eye involvement 2

98693 Spinocerebellar ataxia with oculomotor anomaly 2

98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly

98695 Mitochondrial disease with eye involvement 1

98696 Genodermatosis with ocular features 6

98697 Genetic keratinization disorder associated with ocular features 2

98698 Ichthyosis associated with ocular features

98699 Syndromic ichthyosis associated with ocular features

98700 Pigmentation disorder with eye involvement 2

98701 Phakomatosis with eye involvement

98702 Connective tissue disease with eye involvement

98703 Disease with potential neoplastic degeneration associated with ocular features

98704 Onycho-patellar syndrome with eye involvement

98706 Oculocutaneous or ocular albinism 3

98708 Pigmentation disorder with eye involvement, excluding albinism

98709 Ectodermal malformation syndrome associated with ocular features

98710 Metabolic disease associated with ocular features 5

98711 Metabolic disease with corneal opacity

98712 Metabolic disease with cataract 1

98713 Metabolic disease with pigmentary retinitis

98714 Metabolic disease with macular cherry-red spot

98715 Uveitis 3

98716 Heart position anomaly 1

98717 Transposition of the great arteries and conotruncal cardiac anomaly 4

98718 Aortic malformation

98719 Pulmonary artery or pulmonary branch anomaly 1

98720 Atrioventricular valve anomaly 3

98721 Congenital tricuspid malformation 1

98722 Atrioventricular canal defect

98723 Hypoplastic right heart syndrome

98724 Congenital anomaly of the great arteries 5

98725 Ascending aorta anomaly

98727 Atrial defect and interatrial communication 2

98729 Congenital pulmonary veins anomaly 1

98731 Congenital arteriovenous fistula

98733 Noonan syndrome and Noonan-related syndrome

98851 Mast cell leukemia

98888 X-linked complex spastic paraplegia

98910 Alpha-crystallinopathy 1

99 Autosomal dominant cerebellar ataxia 4

99408 Pituitary adenoma 1

99739 Rare familial disorder with hypertrophic cardiomyopathy 5

99892 ACTH-dependent Cushing syndrome

99893 ACTH-independent Cushing syndrome 1

99909 Occupational allergic alveolitis

99913 Extragonadal non-dysgerminomatous germ cell tumor

99983 Cutaneous myiasis