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76 Result(s)

ORPHA:567  22q11.2 deletion syndrome

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ORPHA:932  Achondrogenesis

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ORPHA:52  Alagille syndrome

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

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ORPHA:72  Angelman syndrome

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ORPHA:87  Apert syndrome

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ORPHA:100  Ataxia-telangiectasia

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ORPHA:79399  Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

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ORPHA:107  BOR syndrome

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ORPHA:109  Bannayan-Riley-Ruvalcaba syndrome

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ORPHA:98895  Becker muscular dystrophy

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ORPHA:86814  Benign adult familial myoclonic epilepsy

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ORPHA:306  Benign familial infantile epilepsy

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ORPHA:848  Beta-thalassemia

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ORPHA:3047  Blepharophimosis-intellectual disability syndrome, SBBYS type

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ORPHA:1297  Branchio-oculo-facial syndrome

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ORPHA:138  CHARGE syndrome

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ORPHA:140  Campomelic dysplasia

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ORPHA:195  Cat-eye syndrome

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ORPHA:90658  Charcot-Marie-Tooth disease type 1E

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ORPHA:187  Citrullinemia

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ORPHA:191  Cockayne syndrome

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ORPHA:192  Coffin-Lowry syndrome

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ORPHA:1023  Congenital generalized hypertrichosis, Ambras type

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ORPHA:199  Cornelia de Lange syndrome

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ORPHA:96253  Cushing disease

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ORPHA:586  Cystic fibrosis

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ORPHA:218  Darier disease

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ORPHA:870  Down syndrome

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ORPHA:98896  Duchenne muscular dystrophy

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ORPHA:1775  Dyskeratosis congenita

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ORPHA:1020  Early-onset autosomal dominant Alzheimer disease

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ORPHA:733  Familial adenomatous polyposis

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ORPHA:2841  Familial benign chronic pemphigus

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ORPHA:211  Familial cylindromatosis

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ORPHA:84  Fanconi anemia

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ORPHA:908  Fragile X syndrome

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ORPHA:93256  Fragile X-associated tremor/ataxia syndrome

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ORPHA:2053  Freeman-Sheldon syndrome

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ORPHA:1986  Gollop-Wolfgang complex

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ORPHA:377  Gorlin syndrome

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ORPHA:380  Greig cephalopolysyndactyly syndrome

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

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

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ORPHA:611  Inclusion body myositis

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ORPHA:464  Incontinentia pigmenti

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ORPHA:1048  Isolated anencephaly/exencephaly

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ORPHA:475  Joubert syndrome

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ORPHA:2929  Juvenile polyposis syndrome

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ORPHA:503  Larsen syndrome

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ORPHA:144  Lynch syndrome

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ORPHA:531  Miller-Dieker syndrome

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ORPHA:281  Monosomy 5p

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ORPHA:29073  Multiple myeloma

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ORPHA:627  Nance-Horan syndrome

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ORPHA:634  Netherton syndrome

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ORPHA:648  Noonan syndrome

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ORPHA:141132  Oculo-auriculo-vertebral spectrum

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ORPHA:666  Osteogenesis imperfecta

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ORPHA:705  Pendred syndrome

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ORPHA:716  Phenylketonuria

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ORPHA:308  Progressive myoclonic epilepsy type 1

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ORPHA:778  Rett syndrome

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ORPHA:2909  Rothmund-Thomson syndrome

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ORPHA:783  Rubinstein-Taybi syndrome

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ORPHA:819  Smith-Magenis syndrome

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ORPHA:273  Steinert myotonic dystrophy

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ORPHA:22  Succinic semialdehyde dehydrogenase deficiency

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ORPHA:1860  Thanatophoric dysplasia type 1

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ORPHA:881  Turner syndrome

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ORPHA:886  Usher syndrome

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ORPHA:3447  Weaver syndrome

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ORPHA:904  Williams syndrome

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ORPHA:905  Wilson disease

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ORPHA:280  Wolf-Hirschhorn syndrome

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ORPHA:85287  X-linked intellectual disability, Siderius type

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