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100039 Familial pseudohyperkalemia type 1
100040 Familial pseudohyperkalemia type 2
100041 Familial pseudohyperkalemia, Cardiff type
100072 True vascular thoracic outlet syndrome
101022 Mediterranean macrothrombocytopenia
101036 Zlotogura-Martinez syndrome
101042 Taussig-Bing syndrome
101052 Microlissencephaly type B
1011 Alopecia-hypogonadism-extrapyramidal syndrome
101107 Spinocerebellar ataxia type 22
101151 Dystonia 14
101335 Indian tick typhus
101336 Kenya tick typhus
101337 Marseilles fever
101338 Mediterranean spotted fever
1019 Epstein syndrome
101978 Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
101980 Disease with isotype or light chain deficiencies with normal numbers of B cells
101982 Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
102069 Hepatic amyloidosis with intrahepatic cholestasis
103 Genetic optic atrophy
103915 Immunoproliferative small intestinal disease
1044 Anemia due to adenosine triphosphatase deficiency
1057 Intracranial aneurysms-multiple congenital anomalies syndrome
1060 Systemic cystic angiomatosis-Seip syndrome
1088 Short stature-heart defect-craniofacial anomalies syndrome
1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome
1137 Pulmonary aortic stenosis obstructive uropathy
1139 Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
1153 Transient neonatal arthrogryposis
1211 Atrichia-mental and growth delay syndrome
1219 Aurocephalosyndactyly
1235 Ectodermal dysplasia-absent dermatoglyphs syndrome
1239 Behr syndrome
1245 BIDS syndrome
1249 Binswanger disease
1250 Blaichman syndrome
1251 Blepharofacioskeletal syndrome
1258 Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
1271 Bowen syndrome
1301 Bronchiectasis-oligospermia syndrome
1317 CAMFAK syndrome
1339 Cranioacrofacial syndrome
1376 Congenital cataract-ichthyosis syndrome
137862 Martínez-Frías syndrome
137871 Laminopathy type Decaudain-Vigouroux
137923 Cervicofacial lymphatic malformation
138063 Syndrome associated with Pierre Robin syndrome
138066 Pierre Robin syndrome associated with miscellaneous anomalies
139006 Sequence or association
139015 Chondrodysplastic malformation syndrome
139018 Non-chondrodysplastic malformation syndrome affecting bones
139373 Recessive hereditary methemoglobinemia type 1
139380 Recessive hereditary methemoglobinemia type 2
139477 Al-Gazali-Dattani syndrome
1401 CHAND syndrome
140462 X-linked recessive hereditary axonal motor and sensory neuropathy
1417 Platyspondylic lethal chondrodysplasia
1432 Autosomal dominant chorioretinopathy-microcephaly syndrome
1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome
1499 Cortada-Koussef-Matsumoto syndrome
151 Familial renal cell carcinoma
1526 Craniosynostosis-synostoses-hypertensive nephropathy syndrome
1534 Craniosynostosis-radial aplasia, Imaizumi type
1535 Craniosynostosis-dysmorphism-brachydactyly syndrome
1557 Cutis verticis gyrata-intellectual disability syndrome
1564 Dandy-Walker malformation-facial hemangioma syndrome
156723 Piepkorn dysplasia
1569 De Sanctis-Cacchione syndrome
1575 Infantile striatothalamic degeneration
1577 Infantile thalamic degeneration
157788 Hypospadias-hypertelorism-coloboma and deafness syndrome
157855 HARP syndrome
157938 Joker disease
1611 Deletion 20p
1625 Deletion 4q
163528 Acute cutaneous lupus erythematosus
163673 Spondyloepiphyseal dysplasia, Byers type
163678 Unclassified spondylometaphyseal dysplasia
163953 X-linked intellectual disability, Raymond type
1651 Dennis-Cohen syndrome
165961 Subcutaneous myiasis
166457 Other forms of non-paraneoplastic limbic encephalitis
1674 Digitorenocerebral syndrome
1678 Dincsoy-Salih-Patel syndrome
1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
168972 Kahrizi syndrome
169446 Autosomal recessive hyper-IgE syndrome
1739 Duplication 4q
178503 Dursun syndrome
1789 Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome
1792 Humerospinal dysostosis
1800 Craniofaciocervical osteoglyphic dysplasia
1823 Localized epiphyseal dysplasia
1831 De Hauwere syndrome
183604 Rare genetic glaucoma
183672 Common variable immunodeficiency due to TNFR deficiency
1838 Metaphyseal dysplasia without hypotrichosis
1850 Renal dysplasia-megalocystis-sirenomelia syndrome
1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome
1889 Ectrodactyly-cleft palate syndrome
189424 ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia
1939 Envenomization by Bothrops lanceolatus
1940 Shoulder and thorax deformity-congenital heart disease syndrome
1981 Fanconi syndrome-ichthyosis-dysmorphism syndrome
1984 Fechtner syndrome
2005 Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome
2029 Multiple non-ossifying fibromatosis
2051 Fraser-like syndrome
2055 Growth deficiency-brachydactyly-dysmorphism syndrome
2060 Fukuda-Miyanomae-Nakata syndrome
206606 Other muscle weakness and/or chronic muscle pain
206610 Chronic muscular fatigue and/or chronic muscle pain
206616 Acquired metabolic neuropathy
206619 Toxic or/and iatrogenic neuropathy
206659 Non-dystrophic myopathy with collagen 6 anomaly
206713 Distal spinal muscular atrophy
206979 Granulomatous myositis
206985 Drug and/or toxic myopathy
207003 Endocrine myopathy
207006 Acquired amyloid myopathy
207009 Acquired rod-body myopathy
207031 Rare disease with corpus callosum agenesis associated with peripheral neuropathy
208600 Papillary fibroelastoma of the heart
2087 Glomerulonephritis-sparse hair-telangiectasis syndrome
208994 Other ganglionopathy related to autoimmune diseases
2099 Grix-Blankenship-Peterson syndrome
210566 Myoclonic dystonia 15
210592 Giant infantile hemangioma
2112 Follicular hamartoma-alopecia-cystic fibrosis syndrome
2113 Congenital hypothalamic hamartoma syndrome
2120 Heckenlively syndrome
2125 Sacral hemangiomas-multiple congenital abnormalities syndrome
2129 Hemihypertrophy-intestinal web-corneal opacity syndrome
2161 Holoacardius amorphus
216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
217034 Male infertility with normal virilization due to meiosis defect
217046 Autosomal recessive childhood-onset cortical cataract
217049 Rare non-syndromic cataract
217052 Infantile non-syndromic cataract
217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome
2174 Hunter-Carpenter-McDonald syndrome
217410 Circumscribed lymphatic malformation
218432 Familial restrictive cardiomyopathy type 3
2243 Hypopituitarism-micropenis-cleft lip/palate syndrome
2244 Hypopituitarism-microphthalmia syndrome
2245 Hypopituitarism-postaxial polydactyly syndrome
2267 Ichthyosis-cheek-eyebrow syndrome
2284 Primary T cell immunodeficiency
228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome
228418 Microcephaly-seizures-developmental delay syndrome
231205 Common variable immunodeficiency without known genetic defect
231256 Beta-thalassemia-trichothiodystrophy syndrome
2355 Kumar-Levick syndrome
235835 Congenital vascular bone syndrome with limb overgrowth
235838 Congenital vascular bone syndrome with limb shortening
238691 Congenital liver hemangioma
2389 Lewis-Pashayan syndrome
240266 Systemic non-Langerhans cell histiocytosis
240843 Acenocoumarol toxicity
240847 Amitriptyline toxicity
240849 Antipsychotics toxicity
240851 Atorvastatin toxicity
240853 Azathioprine toxicity
240855 Capecitabine toxicity
240857 Carbamazepine toxicity
240859 Carbutamide toxicity
240861 Cisatracurium toxicity
240865 Clomipramine toxicity
240873 Fluindione toxicity
240875 Glibenclamide toxicity
240877 Gliclazide toxicity
240879 Glimepiride toxicity
240881 Glipizide toxicity
240883 Imipramine toxicity
240889 Mercaptopurine toxicity
240891 Mivacurium toxicity
240893 Nortriptyline toxicity
240895 Pancuronium toxicity
240897 Phenprocoumon toxicity
240899 Phenytoin toxicity
240901 Fosphenytoin toxicity
240903 Pravastatin toxicity
240907 Rocuronium toxicity
240909 Rosuvastatin toxicity
240911 Satracurium toxicity
240913 Simvastatin toxicity
240915 Trimipramine toxicity
240917 Vecuronium toxicity
240919 Venlafaxine toxicity
240923 Warfarine toxicity
240925 Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation
240927 Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation
240929 Resistance to acenocoumarol in venous thrombosis and atrial fibrillation
240931 Resistance to amitriptyline in the treatment of depression
240933 Resistance to clomipramine in the treatment of depression
240937 Resistance to fluindione in venous thrombosis and atrial fibrillation
240939 Resistance to imipramine in the treatment of depression
240941 Resistance to nortripilline in the treatment of depression
240943 Resistance to phenprocoumon in venous thrombosis and atrial fibrillation
240945 Resistance to tacrolimus in transplantation
240949 Resistance to trimipramine in the treatment of depression
240951 Resistance to venlafaxine in the treatment of depression
240953 Resistance to warfarine in venous thrombosis and atrial fibrillation
240955 Susceptibility to adverse reaction due to 5-fluorouracil treatment
240957 Susceptibility to adverse reaction due to amitriptyline treatment
240959 Susceptibility to adverse reaction due to antipsychotics treatment
240961 Susceptibility to adverse reaction due to atorvastatin treatment
240963 Susceptibility to adverse reaction due to capecitabine treatment
240965 Susceptibility to adverse reaction due to clomipramine treatment
240967 Susceptibility to adverse reaction due to codeine treatment
240969 Susceptibility to adverse reaction due to efavirenz treatment
240971 Susceptibility to adverse reaction due to imipramine treatment
240973 Susceptibility to adverse reaction due to irinotecan treatment
240975 Susceptibility to adverse reaction due to isoniazide treatment
240977 Susceptibility to adverse reaction due to methotrexate treatment
240979 Susceptibility to adverse reaction due to nortriptyline treatment
240981 Susceptibility to adverse reaction due to pravastatin treatment
240983 Susceptibility to adverse reaction due to rosuvastatin treatment
240985 Susceptibility to adverse reaction due to simvastatin treatment
240987 Susceptibility to adverse reaction due to trimipramine treatment
240989 Susceptibility to adverse reaction due to venlafaxine treatment
240991 Susceptibility to bleeding due to acenocoumarol treatment
240993 Susceptibility to bleeding due to fluindione treatment
240995 Susceptibility to bleeding due to phenprocoumon treatment
240997 Susceptibility to bleeding due to warfarine treatment
240999 Susceptibility to deafness due to cisplatin treatment
241001 Susceptibility to hepatitis due to flucloxacilline treatment
241003 Susceptibility to hepatitis due to voriconazole treatment
241005 Susceptibility to hypersensitivity syndrome due to abacavir treatment
241007 Susceptibility to hypoglycemia due to carbutamide treatment
241009 Susceptibility to hypoglycemia due to glibenclamide treatment
241011 Susceptibility to hypoglycemia due to gliclazide treatment
241013 Susceptibility to hypoglycemia due to glimepiride treatment
241015 Susceptibility to hypoglycemia due to glipizide treatment
241017 Susceptibility to icterus due to raltegravir treatment
241019 Susceptibility to neutropenia due to azathioprine treatment
241021 Susceptibility to neutropenia due to mercaptopurine treatment
241023 Susceptibility to prolonged paralysis due to cisatracurium treatment
241025 Susceptibility to prolonged paralysis due to mivacurium treatment
241027 Susceptibility to prolonged paralysis due to pancuronium treatment
241029 Susceptibility to prolonged paralysis due to rocuronium treatment
241031 Susceptibility to prolonged paralysis due to satracurium treatment
241033 Susceptibility to prolonged paralysis due to vecuronium treatment
241035 Susceptibility to toxic epidermal necrolysis due to allopurinol treatment
241037 Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment
241039 Susceptibility to toxic epidermal necrolysis due to phenytoin treatment
241041 Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment
241045 Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation
2416 Congenital primary lymphedema
2419 Lymphedema-ptosis syndrome
2452 Vascular malposition
2453 Malpuech syndrome
2458 Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome
2474 McLain-Dekaban syndrome
247871 Vitiligo-associated autoimmune disease
2486 Transverse limb deficiency-hemangioma syndrome
2506 Michels syndrome
2507 Mickleson syndrome
251316 Unclassified overlapping connective tissue disease
251891 Atypical teratoid/rhabdoid tumor
252 Spondyloepimetaphyseal dysplasia
2543 Microphthalmia-cataract syndrome
254707 Faisalabad histiocytosis
254712 Familial sinus histiocytosis with massive lymphadenopathy
254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
255117 Autosomal dominant optic atrophy and late-onset deafness
255199 Sporadic Leigh syndrome
255225 Maternally-inherited mitochondrial hypertrophic cardiomyopathy
2569 Moore-Federman syndrome
261512 Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
2621 Low birth weight-dwarfism-dysgammaglobulinemia syndrome
2626 Hypopituitarism-short stature-skeletal anomalies syndrome
2640 Lethal short-limb dwarfism, McAlister-Crane type
2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome
2650 Dwarfism-intellectual disability-eye abnormality syndrome
2654 Syndesmodysplasic dwarfism
2661 Dwarfism-tall vertebrae syndrome
2675 Neuroaxonal dystrophy-renal tubular acidosis syndrome
2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome
268871 Primary syringomyelia/hydromyelia
268874 Congenital hydromyelia
2689 Intermittent neutropenia
2691 Nevo syndrome
2694 Epidermal nevus-vitamin D-resistant rickets syndrome
2706 Oculocerebroacral syndrome
2708 Oculocerebroosseous syndrome
2739 Onycho-tricho-dysplasia-neutropenia syndrome
2742 Ophthalmoplegia-myalgia-tubular aggregates syndrome
276249 Xeroderma pigmentosum complementation group A
276252 Xeroderma pigmentosum complementation group B
276255 Xeroderma pigmentosum complementation group C
276258 Xeroderma pigmentosum complementation group D
276261 Xeroderma pigmentosum complementation group E
276264 Xeroderma pigmentosum complementation group F
276267 Xeroderma pigmentosum complementation group G
2765 Hypertrichotic osteochondrodysplasia
2775 Autosomal recessive carpotarsal osteolysis
2778 Juvenile chronic recurrent multifocal osteomyelitis
278 Corticobasal degeneration
281234 Congenital ichthyosis with trichothiodystrophy
2829 Partington-Anderson syndrome
2837 Pellagra-like skin rash-neurological manifestations syndrome
28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus
2853 Serpentine fibula-polycystic kidneys syndrome
2860 Preeyasombat-Varavithya syndrome
2861 Short stature-microcephaly-heart defect syndrome
2864 Short stature-prognathism-short femoral necks syndrome
2895 Pinsky-Di George-Harley syndrome
289825 Late-onset primary lymphedema
293190 Pleomorphic undifferentiated sarcoma
293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome
294961 Syndromes with synostoses of limbs
2981 Pseudo-Zellweger syndrome
2998 Carnevale syndrome
300337 Congenital blindness due to retinal non-attachment
3013 Radiculomegaly of canine teeth- congenital cataract
3022 Rapp-Hodgkin syndrome
3043 Intellectual disability-unusual facies syndrome
3046 Intellectual disability-unusual facies, Davis-Lafer type
3050 Intellectual disability-hypotonia-skin hyperpigmentation syndrome
3059 X-linked intellectual disability, Gu type
3061 X-linked intellectual disability, Raynaud type
3062 X-linked intellectual disability, Schutz type
3064 X-linked intellectual disability, Wittner type
3065 X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome
306561 Autosomal dominant childhood-onset cortical cataract
306566 Susceptibility to myopathies due to statin treatment
306574 Methotrexate dose selection
306762 Progressive epilepsy and/or ataxia with myoclonus as a major feature
3084 Mirhosseini-Holmes-Walton syndrome
308573 Glycogen storage disease due to acid maltase deficiency, juvenile onset
308604 Glycogen storage disease due to acid maltase deficiency, adult onset
309139 Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA
3106 Robinow-Sorauf syndrome
3112 Patella aplasia-coxa vara-tarsal synostosis syndrome
3118 Rudiger syndrome
3122 Sinus node disease-myopia syndrome
3123 Brittle hair syndrome, Sabinas type
3128 Sakati-Nyhan syndrome
3195 Sternal malformation-vascular dysplasia syndrome
3212 Autosomal dominant optic atrophy and congenital deafness
3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome
3215 Deafness-white hair-contractures-papillomas syndrome
3228 Neurosensory deafness-pituitary dwarfism syndrome
3229 Deafness-peripheral neuropathy-arterial disease syndrome
324982 Adult-onset SAPHO syndrome
324989 Juvenile-onset SAPHO syndrome
3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome
3274 Granulomatous arthritis of childhood
328269 Rare bone disease with limb reduction defect
3284 Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome
329206 Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
3311 Infantile symmetrical thalamic degeneration
3313 Intellectual disability-microcephaly-unusual facies syndrome
3331 Bowed tibiae-radial anomalies-osteopenia-fractures syndrome
3333 Connective tissue dysplasia, Spellacy type
3336 Tomé-Brunet-Fardeau syndrome
3340 Torres-Aybar syndrome
3349 Treft-Sanborn-Carey syndrome
3362 Trichomegaly-cataract-hereditary spherocytosis syndrome
3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome
34 Pipecolic acidemia
3421 Cerebroretinal vasculopathy
3423 Vasquez-Hurst-Sotos syndrome
3438 Biliary tract malformation-renal failure syndrome
3444 Watson syndrome
3446 Weaver-like syndrome
35123 Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
352482 Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement
352497 Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency
352504 Levodopa-unresponsive juvenile parkinsonism
352613 Male infertility due to NANOS1 mutation
352694 Cobblestone lissencephaly type A
352699 Cobblestone lissencephaly type C
352704 Cobblestone lissencephaly type B
36205 Collagenous colitis
363629 GMPPB-related congenital muscular dystrophy
36414 Brain stem tumor
369894 Early infantile epileptic encephalopathy without suppression burst
369902 DDX59-related orofaciodigital syndrome
370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
371439 Genetic cerebrovascular dementia
37629 Neonatal neutropenia
391479 Syndromic frontonasal dysplasia
391658 Cowpox infection
411 Hyperlipoproteinemia type 1
412220 Ramsay Hunt syndrome type II
415675 Small pox
430 Hypodermyiasis
431 Ichthyosis-male hypogonadism syndrome
435808 ACAN-related skeletal dysplasia
441344 Autosomal recessive optic atrophy, OPA9 type
443301 HIV-related lung cancer
443304 HIV-related oropharyngeal cancer
443307 HIV-related anal cancer
443310 HIV-related hepatocellular carcinoma
443313 HIV-related penile cancer
443316 HIV-related Hodgkin lymphoma
443319 HIV-related vulvovaginal cancer
443322 HIV-related cervical cancer
443325 HIV-related Non-Hodgkin lymphoma
443328 HIV-related Kaposi sarcoma
453 IBIDS syndrome
454872 Type 1 interferonopathy with immunodeficiency
463 Adrenal incidentaloma
464682 Disorder with acute infantile liver failure
46489 Bullous systemic lupus erythematosus
46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome
466732 Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome
477697 Hereditary thrombocytopenia-hematological cancer predisposition syndrome
496 Thost-Unna palmoplantar keratoderma
50816 Spondylometaphyseal dysplasia with combined immunodeficiency
51013 Melanoma-pancreatic cancer syndrome
52183 Premature chromosome condensation with microcephaly and intellectual disability
52428 Congenital muscular dystrophy type 1C
54238 Myotonic dystrophy type 3
56965 Progressive bulbar paralysis of childhood
58220 Microscopic colitis
623 NAME syndrome
63261 HERNS syndrome
63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
65279 Lymphocytic colitis
665 Albright hereditary osteodystrophy
670 PIBIDS syndrome
680 Normokalemic periodic paralysis
68388 Neurofibromatosis
711 Glycogen storage disease due to phosphoglucomutase deficiency
71269 Benign exophthalmos syndrome
71270 Auriculoocular anomalies-cleft lip syndrome
71291 Hereditary vascular retinopathy
71516 Mixed dystonia
719 Pili canulati
736 Palmoplantar porokeratosis of Mantoux
75789 SIBIDS syndrome
75790 Pollitt syndrome
77241 Lymphedema praecox
77242 Lymphedema tarda
77302 Oculo-oto-facial dysplasia
77303 Common variable immunodeficiency due to an intrinsic B cell defect
77304 Not NOTCH3-related small vessel disease of the brain
775 X-linked intellectual disability, Martinez type
79142 Familial Dupuytren contracture
79260 Glycogen storage disease type 1C
79261 Glycogen storage disease type 1D
79289 Niemann-Pick disease type D
79316 Phosphoenolpyruvate carboxykinase 1 deficiency
79317 Phosphoenolpyruvate carboxykinase 2 deficiency
79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
79428 Familial segmental neurofibromatosis
79429 Familial spinal neurofibromatosis
79446 Multiple pterygium syndrome, Aslan type
79450 Non-hereditary congenital primary lymphedema
79458 Oley syndrome
79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome
807 Sebastian syndrome
83618 Severe dilated cardiomyopathy due to lamin A/C mutation
84096 Unknown leukodystrophy
850 May-Hegglin thrombocytopenia
85281 MECP2 duplication syndrome
85289 X-linked intellectual disability, Vitale type
85291 X-linked intellectual disability, Wittwer type
85331 X-linked intellectual disability-obesity-short stature syndrome
85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome
85337 X-linked intellectual disability, Zorick type
86917 Lymphedema-cleft palate syndrome
88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome
89833 Palmoplantar keratoderma with tonotubular keratin
89845 Idiopathic hydrops fetalis
90055 Rejection after corneal transplantation
90070 Methotrexate poisoning
90185 Non-hereditary late-onset primary lymphedema
90287 Maculopapular lupus rash
90338 Margarita island ectodermal dysplasia
90339 Rosselli-Gulienetti syndrome
90341 Early-onset sarcoidosis
90345 Unclassified metaphyseal chondrodysplasia
90649 Orofaciodigital syndrome type 7
91128 Graft rejection after lung transplantation
91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome
91353 Choristoma
91365 Secondary ciliary dyskinesia
91415 Familial capillary hemangioma
918 ABCD syndrome
93178 Partial prune belly syndrome
93275 Thanatophoric dysplasia, Glasgow variant
93280 Spondyloepiphyseal dysplasia, Omani type
93301 Brachyolmia type 1, Hobaek type
93303 Brachyolmia type 1, Toledo type
93313 Multiple epiphyseal dysplasia, unclassified type
93365 CINCA syndrome with NLRP3 mutations
93367 CINCA syndrome without NLRP3 mutations
93427 Metatropic dysplasias
93435 Moderate spondylodysplastic dysplasia
93445 Bone disease with increased bone density and metaphyseal or diaphyseal involvement
93452 Craniosynostosis syndrome or cranial ossification disease
93456 Brachydactyly group
93469 Harmonic micromelia
93470 Dysharmonic micromelia
93471 Miscellaneous metabolic disease associated with bone anomaly
93472 Dysmorphic syndrome associated with bone anomaly
93559 C3 deposition glomerulonephritis without proliferation
93564 Pediatric polyarteritis nodosa
93566 Pediatric Sjögren syndrome
93567 Pediatric systemic sclerosis
936 Succinic acidemia
93609 Autosomal recessive distal renal tubular acidosis without deafness
93611 Autosomal recessive distal renal tubular acidosis with deafness
93668 Adult chronic recurrent multifocal osteomyelitis
93688 Non-idiopathic juvenile arthritis
93943 Corpus callosum dysgenesis-hypopituitarism syndrome
93944 X-linked intellectual disability, Fichera type
93955 Benign essential blepharospasm
93956 Truncal dystonia
93957 Limb dystonia
93961 Laryngeal dyskinesia
93962 Cervical dystonia
93963 Autosomal dominant focal dystonia, DYT7 type
93968 Meningocele
94061 Macrocephaly-immune deficiency-anemia syndrome
94084 Cerebro-oculo-facial-lymphatic syndrome
953 Acromesomelic dysplasia, Brahimi-Bacha type
95487 Atypical arterial duct
95701 Congenital adrenal hypoplasia of maternal cause
95721 Thyroid pyramidal lobe
96210 Rare genetic deafness
964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome
97295 Furlong syndrome
97342 Argyrophilic grain disease
97552 Steroid-sensitive nephrotic syndrome without renal biopsy
97569 Unclassified glomerulonephritis
97599 Arterial hypertension due to renal artery stenosis secondary to vasculitis
97668 Neonatal membranous glomerulopathy with maternal NEP deficiency
98064 Rare disease in physical medicine and rehabilitation
98204 Heredodegenerative disease with dystonia as a major feature
98309 Male infertility with impaired virilization
98310 Male infertility with impaired virilization due to an hypothalamic or pituitary disorder
98311 Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia
98312 Male infertility with impaired virilization due to a testicular disorder
98314 Male infertility with impaired virilization due to an acquired testicular defect
98315 Male infertility with impaired virilization due to a viral orchitis
98316 Male infertility with impaired virilization due to an acquired testicular defect associated with trauma
98317 Male infertility with impaired virilization due to an acquired testicular defect drug-related
98318 Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin
98319 Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity
98320 Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease
98321 Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease
98322 Male infertility with impaired virilization due to a testicular disorder associated with renal failure
98323 Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease
98324 Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness
98325 Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis
98326 Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder
98327 Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease
98328 Male infertility with normal virilization
98329 Male infertility with normal virilization due to a hypothalamic or pituitary defect
98330 Male infertility with normal virilization due to androgen administration
98331 Male infertility with normal virilization due to a testicular defect
98332 Male infertility with normal virilization due to a developmental or structural testicular defect
98333 Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism
98334 Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele
98335 Male infertility with normal virilization due to an acquired testicular defect
98336 Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection
98337 Male infertility with normal virilization due to an acquired testicular defect associated with radiation
98338 Male infertility with normal virilization due to an acquired testicular defect associated with drug
98339 Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin
98340 Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity
98341 Male infertility with normal virilization due to a systemic disease
98342 Male infertility with normal virilization due to testicular defect associated with spinal cord injury
98454 Platelet storage pool disease
98589 Palpebral malignant melanoma
98629 Rare glaucoma
98675 Autosomal recessive optic atrophy
98677 Autosomal recessive syndromic optic atrophy
98678 X-linked recessive optic atrophy
98682 Essential strabismus
98726 Pulmonary artery/pulmonary branch anomaly
98730 Atrioventricular discordance
98734 Cardioskeletal syndrome
98770 Spinocerebellar ataxia type 16
98788 Pitt-Rogers-Danks syndrome
98812 Paroxysmal hypnogenic dyskinesia
98861 Primary ciliary dyskinesia, Kartagener type
98864 Common hereditary elliptocytosis
98865 Homozygous hereditary elliptocytosis
98866 Spherocytic elliptocytosis
98867 Hereditary pyropoikilocytosis
98894 Congenital muscular dystrophy type 1D
98932 Shy-Drager syndrome
98941 Von Hippel anomaly
98968 Central discoid corneal dystrophy
98983 Congenital cataract, Volkmann type
98986 Coppock-like cataract
98987 Cataract, Hutterite type
99012 Autosomal recessive optic atrophy, OPA6 type
99044 Double outlet right ventricle with subaortic ventricular septal defect
99047 Double outlet right ventricle with doubly committed ventricular septal defect
99096 Multiple ventricular septal defects
99097 Single ventricular septal defect
99126 Pulmonary vein atresia
99134 Intermediate stomatocytosis syndrome
99143 Mandibulofacial dysostosis-lymphedema syndrome syndrome
99146 Platelet function disease associated with renal insufficiency
995 X-linked fetal akinesia syndrome
99648 Non-progressive congenital heart block
99649 Generalized epilepsy and praxis-induced seizures
99650 Non-pore-loop channelopathy involved in several types of epilepsy
99651 Non-pore-loop channelopathy involved in other renal tubular disorder
99664 Trochlear nerve palsy
99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome
99715 MASS syndrome
99722 Sporadic achalasia
99723 Familial esophageal achalasia
99777 Achalasia-alacrimia syndrome
99781 Familial articular chondrocalcinosis type 1
99782 Familial articular chondrocalcinosis type 2
99817 Non-polyposis Turcot syndrome
99831 Common variable immunodeficiency due to an intrinsic T cell defect
99859 Posttraumatic syringomyelia
99864 Classic seminoma
99866 Metastatic spermatocytic seminoma
99972 Immunoglobulin A1 deficiency
99973 Immunoglobulin A2 deficiency
99974 TACI-related selective deficiency of IgA
99985 Familial restrictive cardiomyopathy type 1
99986 Familial restrictive cardiomyopathy type 2
99987 Anophthalmia-esophageal-genital syndrome syndrome