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La liste des maladies pour lesquelles les tests génétiques sont dans la sélection des tests xGenCloud de service

22q11.2 duplication syndrome (omim id:608363)
3 beta-Hydroxysteroid dehydrogenase deficiency (omim id:201810)
3-Methylglutaconic aciduria type 2 (omim id:302060)
3-Methylglutaconic aciduria type 3 (omim id:258501)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (omim id:264600)
Aarskog syndrome (omim id:305400)
Aase syndrome (omim id:612561)
Achondroplasia (omim id:100800)
Acrocephalosyndactyly type I (omim id:101200)
Acromicric dysplasia (omim id:102370)
ACTH deficiency (omim id:201400)
Adenomatous polyposis coli (omim id:175100)
Adenylosuccinate lyase deficiency (omim id:103050)
Adrenoleukodystrophy (omim id:300100)
Adult onset ataxia with oculomotor apraxia (omim id:208920)
Agammaglobulinemia, non-Bruton type (omim id:601495)
AGAT deficiency (omim id:612718)
Alagille syndrome 1 (omim id:118450)
Alexander's disease (omim id:203450)
Allan-Herndon-Dudley syndrome (omim id:300523)
Alpha-1-antitrypsin deficiency (omim id:613490)
Alzheimer disease, type 4 (omim id:606889)
Amish lethal microcephaly (omim id:607196)
Amyloidogenic transthyretin amyloidosis (omim id:105210)
Amyotrophic lateral sclerosis type 1 (omim id:105400)
Amyotrophic lateral sclerosis type 10 (omim id:612069)
Amyotrophic lateral sclerosis type 12 (omim id:613435)
Amyotrophic lateral sclerosis type 6 (omim id:608030)
Amyotrophic lateral sclerosis type 8 (omim id:608627)
Andermann syndrome (omim id:218000)
Andersen Tawil syndrome (omim id:170390)
Androgen resistance syndrome (omim id:300068)
Angelman syndrome (omim id:105830)
Ankylosing spondylitis (omim id:106300)
Antithrombin III deficiency (omim id:613118)
Aortic aneurysm, familial thoracic 6 (omim id:611788)
Arrhythmogenic right ventricular cardiomyopathy, type 10 (omim id:610193)
Arrhythmogenic right ventricular cardiomyopathy, type 11 (omim id:610476)
Arrhythmogenic right ventricular cardiomyopathy, type 12 (omim id:611528)
Arrhythmogenic right ventricular cardiomyopathy, type 2 (omim id:600996)
Arrhythmogenic right ventricular cardiomyopathy, type 5 (omim id:604400)
Arrhythmogenic right ventricular cardiomyopathy, type 8 (omim id:607450)
Arrhythmogenic right ventricular cardiomyopathy, type 9 (omim id:609040)
Arthrogryposis multiplex congenita distal type 1 (omim id:108120)
Arthrogryposis multiplex congenita, distal, X-linked (omim id:301830)
Aspartylglycosaminuria (omim id:208400)
Atrial septal defect 2 (omim id:607941)
Atrial septal defect 7 with or without atrioventricular conduction defects (omim id:108900)
ATR-X syndrome (omim id:301040)
Atypical hemolytic-uremic syndrome 1 (omim id:235400)
Atypical hemolytic-uremic syndrome 2 (omim id:612922)
Atypical hemolytic-uremic syndrome 3 (omim id:612923)
Atypical hemolytic-uremic syndrome 4 (omim id:612924)
Atypical hemolytic-uremic syndrome 5 (omim id:612925)
Atypical hemolytic-uremic syndrome 6 (omim id:612926)
Autoimmune lymphoproliferative syndrome (omim id:601859)
Autoimmune lymphoproliferative syndrome, type 2 (omim id:603909)
Autosomal recessive centronuclear myopathy (omim id:255200)
Avellino corneal dystrophy (omim id:607541)
Azorean disease (omim id:109150)
Bamforth syndrome (omim id:241850)
Band-like calcification with simplified gyration and polymicrogyria (omim id:251290)
Baraitser-Winter Syndrome 2 (omim id:614583)
Barakat syndrome (omim id:146255)
Bartter syndrome antenatal type 1 (omim id:601678)
Bartter syndrome antenatal type 2 (omim id:241200)
Bartter syndrome, type 3 (omim id:607364)
Beckwith-Wiedemann syndrome (omim id:130650)
Benign familial neonatal-infantile seizures (omim id:607745)
Benign hereditary chorea (omim id:118700)
Bernard Soulier syndrome (omim id:231200)
beta Thalassemia (omim id:613985)
Bile acid synthesis defect, congenital, 3 (omim id:613812)
Bloom syndrome (omim id:210900)
Borjeson-Forssman-Lehmann syndrome (omim id:301900)
Brachydactyly type B1 (omim id:113000)
Branchiooculofacial syndrome (omim id:113620)
Breast-ovarian cancer, familial 1 (omim id:604370)
Breast-ovarian cancer, familial 2 (omim id:612555)
Bruck syndrome 2 (omim id:609220)
Brugada syndrome 1 (omim id:601144)
Brugada syndrome 2 (omim id:611777)
Brugada syndrome 3 (omim id:611875)
Brugada syndrome 4 (omim id:611876)
Brugada syndrome 5 (omim id:612838)
Brugada syndrome 7 (omim id:613120)
Bulbo-spinal atrophy X-linked (omim id:313200)
Camptodactyly, tall stature, and hearing loss syndrome (omim id:610474)
Capillary malformation-arteriovenous malformation (omim id:608354)
Carbohydrate-deficient glycoprotein syndrome type I (omim id:212065)
Cardio-facio-cutaneous syndrome (omim id:115150)
Cardiomyopathy dilated with woolly hair and keratoderma (omim id:605676)
Cardiomyopathy, dilated, 3b (omim id:302045)
Carney complex, type 1 (omim id:160980)
Carnitine palmitoyltransferase I deficiency (omim id:255120)
Celiac disease (omim id:212750)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (omim id:125310)
Cerebral cavernous malformations 2 (omim id:603284)
Cerebral cavernous malformations 3 (omim id:603285)
Cerebral folate deficiency (omim id:613068)
Ceroid lipofuscinosis neuronal 1 (omim id:256730)
Ceroid lipofuscinosis neuronal 10 (omim id:610127)
Ceroid lipofuscinosis neuronal 5 (omim id:256731)
Ceroid lipofuscinosis neuronal 6 (omim id:601780)
Ceroid lipofuscinosis neuronal 7 (omim id:610951)
Ceroid lipofuscinosis neuronal 8 (omim id:600143)
Ceroid lipofuscinosis, neuronal, 2 (omim id:204500)
Charcot-Marie-Tooth disease type 2B1 (omim id:605588)
Charcot-Marie-Tooth disease type 2C (omim id:606071)
Charcot-Marie-Tooth disease type 2F (omim id:606595)
Charcot-Marie-Tooth disease, dominant intermediate c (omim id:608323)
Charcot-Marie-Tooth disease, type 1E (omim id:118300)
Charcot-Marie-Tooth disease, type 2A1 (omim id:118210)
Charcot-Marie-Tooth disease, type 4A (omim id:214400)
Charcot-Marie-Tooth disease, type 4D (omim id:601455)
Charcot-Marie-Tooth disease, type IA (omim id:118220)
Charcot-Marie-Tooth disease, type IB (omim id:118200)
CHARGE association (omim id:214800)
Child syndrome (omim id:308050)
Cholecystitis (omim id:600803)
Chondrodysplasia punctata 1, X-linked recessive (omim id:302950)
Chondrodysplasia punctata 2 X-linked dominant (omim id:302960)
Chondrodysplasia with joint dislocations, gpapp type (omim id:614078)
Chondroectodermal dysplasia (omim id:225500)
Christianson syndrome (omim id:300243)
Chronic granulomatous disease, X-linked (omim id:306400)
Chronic obstructive pulmonary disease (omim id:606963)
Ciliary dyskinesia, primary, 11 (omim id:612649)
Ciliary dyskinesia, primary, 12 (omim id:612650)
Ciliary dyskinesia, primary, 14 (omim id:613807)
Ciliary dyskinesia, primary, 15 (omim id:613808)
Citrullinemia type I (omim id:215700)
COACH syndrome (omim id:216360)
Coffin-Lowry syndrome (omim id:303600)
Combined molybdoflavoprotein enzyme deficiency (omim id:252150)
Common variable agammaglobulinemia (omim id:240500)
Congenital absence of salivary gland (omim id:180920)
Congenital aniridia (omim id:106210)
Congenital central hypoventilation (omim id:209880)
Congenital cerebellar hypoplasia (omim id:213000)
Congenital contractural arachnodactyly (omim id:121050)
Congenital defect of folate absorption (omim id:229050)
Congenital generalized lipodystrophy type 1 (omim id:608594)
Congenital generalized lipodystrophy type 2 (omim id:269700)
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type 5B (omim id:606612)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 (omim id:613150)
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 (omim id:613152)
Congenital muscular hypertrophy-cerebral syndrome (omim id:300590)
Congenital myopathy with fiber type disproportion (omim id:255310)
Cornelia de Lange syndrome 1 (omim id:122470)
Cortical dysplasia, complex, with other brain malformations (omim id:614039)
Corticosterone methyloxidase type 1 deficiency (omim id:203400)
Costello syndrome (omim id:218040)
Craniosynostosis 1 (omim id:123100)
Creatine deficiency, X-linked (omim id:300352)
Creatine phosphokinase, elevated serum (omim id:123320)
Crigler-Najjar syndrome (omim id:218800)
Currarino triad (omim id:176450)
Cyclical neutropenia (omim id:162800)
CYP2C19-related poor drug metabolism (omim id:609535)
Cystic fibrosis (omim id:219700)
Cystinosis (omim id:219800)
Cystinuria (omim id:220100)
Cytochrome-c oxidase deficiency (omim id:220110)
D-2-hydroxyglutaric aciduria 1 (omim id:600721)
D-2-hydroxyglutaric aciduria 2 (omim id:613657)
Danon disease (omim id:300257)
Deafness, autosomal dominant 3a (omim id:601544)
Deafness, autosomal dominant 3b (omim id:612643)
Deafness, autosomal recessive 1A (omim id:220290)
Deafness, autosomal recessive 9 (omim id:601071)
Deafness, X-linked 2 (omim id:304400)
Deficiency of alpha-glucosidase (omim id:232300)
Deficiency of guanidinoacetate methyltransferase (omim id:612736)
Deficiency of iodide peroxidase (omim id:274500)
Deficiency of malonyl-CoA decarboxylase (omim id:248360)
Deficiency of ribose-5-phosphate isomerase (omim id:608611)
Deficiency of steroid 11-beta-monooxygenase (omim id:202010)
Deficiency of steroid 17-alpha-monooxygenase (omim id:202110)
Deficiency of transaldolase (omim id:606003)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase (omim id:230400)
Deficiency of xanthine oxidase (omim id:278300)
Dent disease 1 (omim id:300009)
Dentatorubral pallidoluysian atrophy (omim id:125370)
Desbuquois syndrome (omim id:251450)
Diabetes mellitus AND insipidus with optic atrophy AND deafness (omim id:222300)
Diamond-Blackfan anemia (omim id:105650)
Diamond-Blackfan anemia 10 (omim id:613309)
Diamond-Blackfan anemia 3 (omim id:610629)
Diamond-Blackfan anemia 4 (omim id:612527)
Diamond-Blackfan anemia 5 (omim id:612528)
Diamond-Blackfan anemia 8 (omim id:612563)
Diamond-Blackfan anemia 9 (omim id:613308)
Dihydropyrimidine dehydrogenase deficiency (omim id:274270)
Dilated cardiomyopathy 1A (omim id:115200)
Dilated cardiomyopathy 1E (omim id:601154)
Dilated cardiomyopathy 1I (omim id:604765)
Disorder due cytochrome p450 CYP2D6 variant (omim id:608902)
Distal arthrogryposis type 1B (omim id:614335)
Distal arthrogryposis type 2B (omim id:601680)
Distal hereditary motor neuronopathy type 2A (omim id:158590)
Distal hereditary motor neuronopathy type 2B (omim id:608634)
Distal hereditary motor neuronopathy type 2C (omim id:613376)
Distal hereditary motor neuronopathy type 5 (omim id:600794)
Distal myopathy Markesbery-Griggs type (omim id:600334)
Distal spinal muscular atrophy, congenital nonprogressive (omim id:600175)
Distichiasis-lymphedema syndrome (omim id:153400)
DNM2-related intermediate Charcot-Marie-Tooth neuropathy (omim id:606482)
Dominant hereditary optic atrophy (omim id:165500)
Dopamine beta hydroxylase deficiency (omim id:223360)
Drash syndrome (omim id:194080)
Duane-radial ray syndrome (omim id:607323)
Dysequilibrium syndrome (omim id:224050)
Dyskeratosis congenita autosomal dominant (omim id:127550)
Dyskeratosis congenita autosomal recessive (omim id:224230)
Dyskeratosis congenita X-linked (omim id:305000)
Dyskeratosis congenita, autosomal recessive 2 (omim id:613987)
Dyskeratosis congenita, autosomal recessive, 3 (omim id:613988)
Dystonia 5, Dopa-responsive type (omim id:128230)
Dystonia 6, torsion (omim id:602629)
Dystrophinopathies (omim id:300376, 302045, 310200)
Early myoclonic encephalopathy (omim id:609304)
Ectopia lentis, isolated autosomal recessive (omim id:225100)
Ehlers-Danlos syndrome, musculocontractural type (omim id:601776)
Ehlers-Danlos syndrome, procollagen proteinase deficient (omim id:130060)
Ehlers-Danlos syndrome, type 4 (omim id:130050)
Eichsfeld type congenital muscular dystrophy (omim id:602771)
Emery-Dreifuss muscular dystrophy 1, X-linked (omim id:310300)
Encephalopathy, neonatal severe, due to MECP2 mutations (omim id:300673)
Endplate acetylcholinesterase deficiency (omim id:603034)
Enlarged vestibular aqueduct syndrome (omim id:600791)
Epilepsy with neurodevelopmental defects (omim id:613971)
Epilepsy, progressive myoclonic 5 (omim id:613832)
Epileptic encephalopathy, early infantile, 10 (omim id:613402)
Epileptic encephalopathy, early infantile, 11 (omim id:613721)
Epileptic encephalopathy, early infantile, 2 (omim id:300672)
Epileptic encephalopathy, early infantile, 4 (omim id:612164)
Epileptic encephalopathy, early infantile, 5 (omim id:613477)
Epileptic encephalopathy, early infantile, 9 (omim id:300088)
Erythrocytosis, familial, 2 (omim id:263400)
Fabry's disease (omim id:301500)
Failure of tooth eruption, primary (omim id:125350)
Familial cancer of breast (omim id:114480)
Familial cold urticaria (omim id:120100)
Familial dysautonomia (omim id:223900)
Familial hypercholesterolemia (omim id:143890)
Familial hypertriglyceridemia (omim id:145750)
Familial hypertrophic cardiomyopathy 10 (omim id:608758)
Familial hypertrophic cardiomyopathy 2 (omim id:115195)
Familial hypertrophic cardiomyopathy 3 (omim id:115196)
Familial hypertrophic cardiomyopathy 4 (omim id:115197)
Familial hypertrophic cardiomyopathy 6 (omim id:600858)
Familial hypertrophic cardiomyopathy 8 (omim id:608751)
Familial hypokalemia-hypomagnesemia (omim id:263800)
Familial hypoplastic, glomerulocystic kidney (omim id:137920)
Familial Mediterranean fever (omim id:249100)
Familial medullary thyroid carcinoma (omim id:155240)
Familial renal hypouricemia (omim id:220150)
Fanconi anemia, complementation group A (omim id:227650)
Fanconi anemia, complementation group C (omim id:227645)
Fanconi anemia, complementation group D1 (omim id:605724)
Fanconi anemia, complementation group G (omim id:614082)
Fanconi anemia, complementation group J (omim id:609054)
Fanconi anemia, complementation group N (omim id:610832)
Fanconi anemia, complementation group O (omim id:613390)
Fanconi anemia, complementation group P (omim id:613951)
FG syndrome (omim id:305450)
FG syndrome 4 (omim id:300422)
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement (omim id:600638)
Fibrous dysplasia of jaw (omim id:118400)
Finnish congenital nephrotic syndrome (omim id:256300)
Floating-Harbor syndrome (omim id:136140)
Focal dermal hypoplasia (omim id:305600)
Focal segmental glomerulosclerosis 1 (omim id:603278)
Focal segmental glomerulosclerosis 2 (omim id:603965)
Fragile X syndrome (omim id:300624)
Fragile X tremor/ataxia syndrome (omim id:300623)
Frasier syndrome (omim id:136680)
FRAXE (omim id:309548)
Freeman-Sheldon syndrome (omim id:193700)
Frontotemporal dementia and/or amyotrophic lateral sclerosis (omim id:105550)
Galactosylceramide beta-galactosidase deficiency (omim id:245200)
Gamma-aminobutyric acid transaminase deficiency (omim id:613163)
Ganglioside sialidase deficiency (omim id:252650)
Gaucher disease (omim id:608013, 230800, 230900, 231000, 231005)
Generalized epilepsy with febrile seizures plus, type 1 (omim id:604233)
Generalized epilepsy with febrile seizures plus, type 2 (omim id:604403)
Gilbert's syndrome (omim id:143500)
Glaucoma, congenital (omim id:231300)
Glomuvenous malformations (omim id:138000)
Glucose transporter type 1 deficiency syndrome (omim id:606777)
Glucose-6-phosphate transport defect (omim id:232220)
Glutaric aciduria, type 1 (omim id:231670)
Gluthathione synthetase deficiency (omim id:266130)
Glycogen storage disease type 1A (omim id:232200)
Goldberg-Shprintzen megacolon syndrome (omim id:609460)
Griscelli syndrome type 2 (omim id:607624)
Hb SS disease (omim id:603903)
Hecht syndrome (omim id:158300)
Heinz body anemias (omim id:140700)
Hemochromatosis type 2A (omim id:602390)
Hemochromatosis type 2B (omim id:613313)
Hemochromatosis type 4 (omim id:606069)
Hemophagocytic lymphohistiocytosis, familial, 2 (omim id:603553)
Hemophagocytic lymphohistiocytosis, familial, 3 (omim id:608898)
Hemophagocytic lymphohistiocytosis, familial, 4 (omim id:603552)
Hemophagocytic lymphohistiocytosis, familial, 5 (omim id:613101)
Hennekam lymphangiectasia-lymphedema syndrome (omim id:235510)
Hereditary angioedema, type III (omim id:610618)
Hereditary angioneurotic edema (omim id:106100)
Hereditary diffuse gastric cancer (omim id:137215)
Hereditary factor IX deficiency disease (omim id:306900)
Hereditary factor XI deficiency disease (omim id:612416)
Hereditary hemochromatosis (omim id:235200)
Hereditary hemorrhagic telangiectasia type 2 (omim id:600376)
Hereditary liability to pressure palsies (omim id:162500)
Hereditary lymphedema type I (omim id:153100)
Hereditary nonpolyposis colorectal cancer type 8 (omim id:613244)
Hereditary pancreatitis (omim id:167800)
Heterotopia, periventricular, autosomal recessive (omim id:608097)
Hirschsprung disease 1 (omim id:142623)
Holocarboxylase synthetase deficiency (omim id:253270)
Holt-Oram syndrome (omim id:142900)
Homocysteinemia due to MTHFR deficiency (omim id:236250)
Homocystinuria due to CBS deficiency (omim id:236200)
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (omim id:236270)
Huntington's chorea (omim id:143100)
Hypercholanemia, familial (omim id:607748)
Hyperimmunoglobulin D with periodic fever (omim id:260920)
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (omim id:243700)
Hyperimmunoglobulin E syndrome (omim id:147060)
Hyperinsulinism-hyperammonemia syndrome (omim id:606762)
Hypermethioninemia due to adenosine kinase deficiency (omim id:614300)
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency (omim id:613752)
Hyperuricemic nephropathy, familial juvenile, 2 (omim id:613092)
Hypochondroplasia (omim id:146000)
Hypothalamic hypothyroidism (omim id:275120)
Idiopathic fibrosing alveolitis, chronic form (omim id:178500)
Immunodeficiency with hyper IgM type 1 (omim id:308230)
Immunodeficiency, common variable, 1 (omim id:607594)
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia (omim id:300853)
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (omim id:167320)
Infantile neuroaxonal dystrophy (omim id:256600)
Infantile-onset ascending hereditary spastic paralysis (omim id:607225)
Insulin-dependent diabetes mellitus secretory diarrhea syndrome (omim id:304790)
Interfrontal craniofaciosynostosis (omim id:190440)
Iodotyrosine deiodination defect (omim id:274800)
Iodotyrosyl coupling defect (omim id:274700)
Islet cell hyperplasia (omim id:601820)
Jarcho-Levin syndrome (omim id:277300)
Jervell and Lange-Nielsen syndrome 2 (omim id:612347)
Joubert syndrome 10 (omim id:300804)
Joubert syndrome 13 (omim id:614173)
Joubert syndrome 2 (omim id:608091)
Joubert syndrome 3 (omim id:608629)
Joubert syndrome 6 (omim id:610688)
Joubert syndrome 7 (omim id:611560)
Joubert syndrome 9 (omim id:612285)
Juvenile neuronal ceroid lipofuscinosis (omim id:204200)
Juvenile polyposis syndrome (omim id:174900)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (omim id:175050)
Kabuki make-up syndrome (omim id:147920)
Kallmann syndrome 2 (omim id:147950)
Kallmann syndrome 3 (omim id:244200)
Kallmann syndrome 5 (omim id:612370)
Keratitis-ichthyosis-deafness syndrome, autosomal dominant (omim id:148210)
Keutel syndrome (omim id:245150)
Kugelberg-Welander disease (omim id:253400)
L-2-hydroxyglutaric aciduria (omim id:236792)
Legius syndrome (omim id:611431)
LEOPARD syndrome 1 (omim id:151100)
LEOPARD syndrome 2 (omim id:611554)
LEOPARD syndrome 3 (omim id:613707)
Leprechaunism syndrome (omim id:246200)
Leri Weill dyschondrosteosis (omim id:127300)
Lesch-Nyhan syndrome (omim id:300322)
Lethal Kniest-like syndrome (omim id:224410)
Lethal multiple pterygium syndrome (omim id:253290)
Levy-Hollister syndrome (omim id:149730)
Limb-girdle muscular dystrophy, type 2A (omim id:253600)
Lipodystrophy, familial partial, type 2 (omim id:151660)
Lipodystrophy, familial partial, type 3 (omim id:604367)
Lissencephaly 1 (omim id:607432)
Lissencephaly 3 (omim id:611603)
Lissencephaly 4 (omim id:614019)
Loeys-Dietz syndrome, type 1C (omim id:613795)
Long QT syndrome 1 (omim id:192500)
Long QT syndrome 2 (omim id:613688)
Long QT syndrome 3 (omim id:603830)
Long QT syndrome 6 (omim id:613693)
Long QT syndrome 9 (omim id:611818)
Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (omim id:609016)
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 (omim id:613011)
Majeed syndrome (omim id:609628)
Marfan's syndrome (omim id:154700)
Mast syndrome (omim id:248900)
Maturity-onset diabetes of the young, type 1 (omim id:125850)
Maturity-onset diabetes of the young, type 2 (omim id:125851)
Maturity-onset diabetes of the young, type 3 (omim id:600496)
McLeod neuroacanthocytosis syndrome (omim id:300842)
Meckel syndrome type 2 (omim id:603194)
Meckel syndrome type 3 (omim id:607361)
Meckel syndrome type1 (omim id:249000)
Meckel syndrome, type 10 (omim id:614175)
Meckel syndrome, type 5 (omim id:611561)
Meckel syndrome, type 6 (omim id:612284)
Meckel syndrome, type 8 (omim id:613885)
Meckel syndrome, type 9 (omim id:614209)
MECP2 duplication syndrome (omim id:300260)
Medium-chain acyl-coenzyme A dehydrogenase deficiency (omim id:201450)
Meier-Gorlin syndrome (omim id:224690)
Melanoma, cutaneous malignant 2 (omim id:155601)
Melnick-Fraser syndrome (omim id:113650)
Menkes kinky-hair syndrome (omim id:309400)
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (omim id:300749)
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance (omim id:300486)
Mental retardation, autosomal dominant 5 (omim id:612621)
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (omim id:613443)
MENTAL RETARDATION, X-LINKED 45 (omim id:300498)
MENTAL RETARDATION, X-LINKED 72 (omim id:300271)
MENTAL RETARDATION, X-LINKED 93 (omim id:300659)
MENTAL RETARDATION, X-LINKED 96 (omim id:300802)
Metachromatic leukodystrophy (omim id:250100)
Methylmalonate semialdehyde dehydrogenase deficiency (omim id:614105)
Methylmalonic acidemia with homocystinuria (omim id:277400)
Methylmalonic aciduria cblA type (omim id:251100)
Methylmalonic aciduria cblB type (omim id:251110)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (omim id:251000)
Microcephalic osteodysplastic primordial dwarfism type 2 (omim id:210720)
Microcytic anemia (omim id:206200)
Microphthalmia, isolated 2 (omim id:610093)
Mitochondrial trifunctional protein deficiency (omim id:609015)
Mohr-Tranebjaerg syndrome (omim id:304700)
Mowat-Wilson syndrome (omim id:235730)
Mucopolysaccharidosis, MPS-II (omim id:309900)
Mucopolysaccharidosis, MPS-III-C (omim id:252930)
Muenke syndrome (omim id:602849)
Multiple Cutaneous and Mucosal Venous Malformations (omim id:600195)
Multiple endocrine neoplasia, type 1 (omim id:131100)
Multiple fibrofolliculomas (omim id:135150)
Multiple self healing squamous epithelioma (omim id:132800)
Muscle eye brain disease (omim id:253280)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (omim id:608931)
MYH-associated polyposis (omim id:608456)
Myoclonic dystonia (omim id:159900)
Myopathy, early-onset, with fatal cardiomyopathy (omim id:611705)
Nail-patella syndrome (omim id:161200)
Nemaline myopathy 3 (omim id:161800)
Nephronophthisis 11 (omim id:613550)
Nephronophthisis 12 (omim id:613820)
Nephronophthisis 9 (omim id:613824)
Nephronophthisis-like nephropathy 1 (omim id:613159)
Nephrotic syndrome, idiopathic, steroid-resistant (omim id:600995)
Nephrotic syndrome, type 3 (omim id:610725)
Neuroferritinopathy (omim id:606159)
Neurofibromatosis, type 1 (omim id:162200)
Neurofibromatosis, type 2 (omim id:101000)
Neuronal ceroid lipofuscinosis (omim id:214200)
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (omim id:256840)
Neutropenia, severe congenital, 4, autosomal recessive (omim id:612541)
Niemann-Pick disease type C1 (omim id:257220)
Niemann-Pick disease type C2 (omim id:607625)
Niemann-Pick disease, type A (omim id:257200)
Non-ketotic hyperglycinemia (omim id:605899)
Noonan syndrome 1 (omim id:163950)
Noonan syndrome 3 (omim id:609942)
Noonan syndrome 4 (omim id:610733)
Noonan syndrome 5 (omim id:611553)
Noonan syndrome 6 (omim id:613224)
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (omim id:613563)
Noonan-like syndrome with loose anagen hair (omim id:607721)
Norum disease (omim id:245900)
Oculodentodigital dysplasia (omim id:164200)
Omodysplasia 1 (omim id:258315)
Opitz-Frias syndrome (omim id:300000)
Optic atrophy and cataract, autosomal dominant (omim id:165300)
Oral-facial-digital syndrome (omim id:311200)
Ornithine carbamoyltransferase deficiency (omim id:311250)
Osler hemorrhagic telangiectasia syndrome (omim id:187300)
Osteogenesis imperfecta type 10 (omim id:613848)
Osteogenesis imperfecta type 11 (omim id:613849)
Osteogenesis imperfecta type 12 (omim id:613982)
Osteogenesis imperfecta type 6 (omim id:610968)
Osteogenesis imperfecta type 7 (omim id:610682)
Osteogenesis imperfecta type 8 (omim id:610915)
Osteogenesis imperfecta type 9 (omim id:259440)
Osteoglophonic dysplasia (omim id:166250)
Osteomyelitis, sterile multifocal, with periostitis and pustulosis (omim id:612852)
Paragangliomas 1 (omim id:168000)
Paragangliomas 3 (omim id:605373)
Paragangliomas 4 (omim id:115310)
Paragangliomas 5 (omim id:614165)
Pelizaeus-Merzbacher disease (omim id:312080)
Pena-Shokeir syndrome type I (omim id:208150)
Pendred's syndrome (omim id:274600)
Permanent neonatal diabetes mellitus (omim id:606176)
Peroxisome biogenesis disorders (omim id:601539)
Persistent hyperinsulinemic hypoglycemia of infancy (omim id:256450)
Peutz-Jeghers syndrome (omim id:175200)
Pfeiffer syndrome (omim id:101600)
Phenylketonuria (omim id:261600)
Pheochromocytoma (omim id:171300)
Pierson syndrome (omim id:609049)
Pigmentary pallidal degeneration (omim id:234200)
Pitt-Hopkins syndrome (omim id:610954)
Pituitary hormone deficiency, combined 1 (omim id:613038)
Pituitary hormone deficiency, combined 2 (omim id:262600)
Pituitary hormone deficiency, combined 3 (omim id:221750)
Pituitary hormone deficiency, combined 4 (omim id:262700)
Plasminogen activator inhibitor type 1 deficiency (omim id:613329)
Pleuropulmonary blastoma (omim id:601200)
Polycystic kidney disease, adult type (omim id:173900)
Polymicrogyria, asymmetric (omim id:610031)
Polymicrogyria, bilateral frontoparietal (omim id:606854)
Pontocerebellar hypoplasia type 2B (omim id:612389)
Pontocerebellar hypoplasia type 2C (omim id:612390)
Pontocerebellar hypoplasia type 4 (omim id:225753)
Pontocerebellar hypoplasia type 6 (omim id:611523)
Porphobilinogen synthase deficiency (omim id:612740)
Prader-Willi syndrome (omim id:176270)
Primary autosomal recessive microcephaly 1 (omim id:251200)
Primary autosomal recessive microcephaly 2 (omim id:604317)
Primary autosomal recessive microcephaly 3 (omim id:604804)
Primary autosomal recessive microcephaly 5 (omim id:608716)
Primary autosomal recessive microcephaly 6 (omim id:608393)
Primary autosomal recessive microcephaly 7 (omim id:612703)
Primary hyperoxaluria, type I (omim id:259900)
Primary hyperoxaluria, type II (omim id:260000)
Primary hyperoxaluria, type III (omim id:613616)
Primary open angle glaucoma juvenile onset 1 (omim id:137750)
Primary pulmonary hypertension (omim id:178600)
Progressive familial heart block type 1A (omim id:113900)
Progressive familial heart block type 1B (omim id:604559)
Progressive familial intrahepatic cholestasis 2 (omim id:601847)
Progressive familial intrahepatic cholestasis 3 (omim id:602347)
Progressive intrahepatic cholestasis (omim id:211600)
Progressive myoclonus epilepsy with ataxia (omim id:612437)
Progressive pseudorheumatoid dysplasia (omim id:208230)
Proopiomelanocortin deficiency (omim id:609734)
Properdin deficiency, X-linked (omim id:312060)
Pseudo von Willebrand disease (omim id:177820)
Pseudohypoaldosteronism type 1 autosomal dominant (omim id:177735)
Pseudohypoparathyroidism type 1A (omim id:103580)
Pyogenic arthritis, pyoderma gangrenosum and acne (omim id:604416)
Pyridoxal 5'-phosphate-dependent epilepsy (omim id:610090)
Pyridoxine-dependent epilepsy (omim id:266100)
Pyruvate dehydrogenase complex deficiency (omim id:312170)
Renal carnitine transport defect (omim id:212140)
Renal coloboma syndrome (omim id:120330)
Renal dysplasia (omim id:267430)
Renal hypouricemia 2 (omim id:612076)
Renal tubular acidosis with progressive nerve deafness (omim id:267300)
Renal tubular acidosis, distal, autosomal recessive (omim id:602722)
Renpenning syndrome 1 (omim id:309500)
Retinoblastoma (omim id:180200)
Rett syndrome, congenital variant (omim id:613454)
Rett's disorder (omim id:312750)
Robinow syndrome (omim id:180700)
Robinow syndrome, autosomal recessive (omim id:268310)
Rubinstein-Taybi syndrome (omim id:180849)
Rubinstein-Taybi syndrome 2 (omim id:613684)
Russell-Silver syndrome (omim id:180860)
Saethre-Chotzen syndrome (omim id:101400)
Scapuloperoneal spinal muscular atrophy (omim id:181405)
Schimke immunoosseous dysplasia (omim id:242900)
Schinzel-Giedion midface retraction syndrome (omim id:269150)
Seckel syndrome (omim id:210600)
Secondary hypothyroidism (omim id:275100)
Severe combined immunodeficiency due to ADA deficiency (omim id:102700)
Severe combined immunodeficiency with sensitivity to ionizing radiation (omim id:602450)
Severe congenital neutropenia autosomal recessive 3 (omim id:610738)
Severe congenital neutropenia X-linked (omim id:300299)
Severe myoclonic epilepsy in infancy (omim id:607208)
Severe X-linked myotubular myopathy (omim id:310400)
Short qt syndrome 1 (omim id:609620)
Shwachman syndrome (omim id:260400)
Sick sinus syndrome 2, autosomal dominant (omim id:163800)
Simpson-Golabi-Behmel syndrome (omim id:312870)
Simpson-Golabi-Behmel syndrome, type 2 (omim id:300209)
Smith-Lemli-Opitz syndrome (omim id:270400)
Sotos' syndrome (omim id:117550)
Spastic ataxia Charlevoix-Saguenay type (omim id:270550)
Spastic paraplegia 10 (omim id:604187)
Spastic paraplegia 11, autosomal recessive (omim id:604360)
Spastic paraplegia 15 (omim id:270700)
Spastic paraplegia 17 (omim id:270685)
Spastic paraplegia 3 (omim id:182600)
Spastic paraplegia 33, autosomal dominant (omim id:610244)
Spastic paraplegia 39 (omim id:612020)
Spastic paraplegia 5A (omim id:270800)
Spastic paraplegia 7 (omim id:607259)
Spastic paraplegia 8 (omim id:603563)
Spermatogenesis arrest (omim id:270960)
Spermatogenic failure, Y-linked 2 (omim id:415000)
Sphingolipid activator protein 1 deficiency (omim id:249900)
Spinal muscular atrophy (omim id:253300, 253550, 253400, 271150)
Spinocerebellar ataxia 1 (omim id:164400)
Spinocerebellar ataxia 10 (omim id:603516)
Spinocerebellar ataxia 12 (omim id:604326)
Spinocerebellar ataxia 17 (omim id:607136)
Spinocerebellar ataxia 2 (omim id:183090)
Spinocerebellar ataxia 7 (omim id:164500)
Spinocerebellar ataxia, autosomal recessive 8 (omim id:610743)
Spondylocostal dysostosis 2 (omim id:608681)
Spondylocostal dysostosis 3 (omim id:609813)
Spondylocostal dysostosis 4, autosomal recessive (omim id:613686)
Spondyloepiphyseal dysplasia with congenital joint dislocations (omim id:143095)
Spondylo-megaepiphyseal-metaphyseal dysplasia (omim id:613330)
Spongy degeneration of central nervous system (omim id:271900)
Steinert myotonic dystrophy syndrome (omim id:160900)
Stickler syndrome type 1 (omim id:108300)
Succinate-semialdehyde dehydrogenase deficiency (omim id:271980)
Sulfite oxidase deficiency (omim id:272300)
Surfactant metabolism dysfunction, pulmonary, 1 (omim id:265120)
Surfactant metabolism dysfunction, pulmonary, 2 (omim id:610913)
Surfactant metabolism dysfunction, pulmonary, 3 (omim id:610921)
Tay-Sachs disease (omim id:272800)
Testosterone 17-beta-dehydrogenase deficiency (omim id:264300)
Thanatophoric dysplasia type 1 (omim id:187600)
Thrombophilia (omim id:188050)
Thrombophilia due to activated protein C resistance (omim id:188055)
Thyroglobulin synthesis defect (omim id:274900)
Thyroid agenesis (omim id:218700)
Thyroid dyshormonogenesis 1 (omim id:274400)
Thyroid dyshormonogenesis 6 (omim id:607200)
Thyroid hormone resistance, selective pituitary (omim id:145650)
Timothy syndrome (omim id:601005)
TNF receptor-associated periodic fever syndrome (TRAPS) (omim id:142680)
Torg Winchester syndrome (omim id:259600)
Townes syndrome (omim id:107480)
Transient neonatal diabetes mellitus 1 (omim id:601410)
Transient neonatal diabetes mellitus 3 (omim id:610582)
Troyer syndrome (omim id:275900)
Tuberous sclerosis 1 (omim id:191100)
Tuberous sclerosis 2 (omim id:613254)
Turcot syndrome (omim id:276300)
Ulna and fibula absence of with severe limb deficiency (omim id:276820)
Usher syndrome, type 1 (omim id:276900)
Usher syndrome, type 1B (omim id:276900)
Usher syndrome, type 1D (omim id:601067)
Van der Woude syndrome (omim id:119300)
Ventricular tachycardia, catecholaminergic polymorphic, 2 (omim id:611938)
Very long chain acyl-CoA dehydrogenase deficiency (omim id:201475)
Von Hippel-Lindau syndrome (omim id:193300)
von Willebrand disorder (omim id:193400, 613554, 277480)
Waardenburg syndrome type 1 (omim id:193500)
Waardenburg syndrome type 2A (omim id:193510)
Waardenburg syndrome, type 2e (omim id:611584)
Waardenburg syndrome, type 4A (omim id:277580)
Waardenburg syndrome, type 4b (omim id:613265)
Waardenburg syndrome, type 4c (omim id:613266)
Walker-Warburg congenital muscular dystrophy (omim id:236670)
Weaver syndrome (omim id:277590)
West syndrome (omim id:308350)
Wilms' tumor (omim id:194070)
Wilson's disease (omim id:277900)
Wolff-Parkinson-White pattern (omim id:194200)
Wolfram syndrome 2 (omim id:604928)
X-linked agammaglobulinemia (omim id:300755)
X-linked lissencephaly (omim id:300067)
X-linked lymphoproliferative syndrome 1 (omim id:308240)
X-linked lymphoproliferative syndrome 2 (omim id:300635)
X-linked mental retardation 21 (omim id:300143)
X-linked mental retardation 30 (omim id:300558)
X-Linked Mental Retardation 41 (omim id:300849)
X-linked mental retardation 46 (omim id:300436)
X-linked mental retardation 58 (omim id:300210)
X-linked mental retardation 63 (omim id:300387)
X-Linked Mental Retardation 88 (omim id:300852)
X-Linked Mental Retardation 89 (omim id:300848)
X-linked mental retardation 9 (omim id:309549)
X-Linked mental retardation 90 (omim id:300850)
X-linked mental retardation 92 (omim id:300851)
X-linked mental retardation with marfanoid habitus syndrome (omim id:309520)
X-linked mental retardation with short stature, hypogonadism and abnormal gait (omim id:300354)
X-linked mental retardation, syndromic 14 (omim id:300676)
X-linked mental retardation, syndromic, Claes-Jensen type (omim id:300534)
X-linked severe combined immunodeficiency (omim id:300400)
ZNF711-Related X-linked Mental Retardation (omim id:300803)
Zunich neuroectodermal syndrome (omim id:280000)

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