AICARDI-GOUTIERES SYNDROME 1
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(OMIM:225750)
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AICARDI-GOUTIERES SYNDROME 3
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(OMIM:610329)
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AICARDI-GOUTIERES SYNDROME 4
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(OMIM:610333)
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ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE
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(OMIM:206000)
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AREDYLD syndrome
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(Orphanet:1133)
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ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
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(OMIM:170995)
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Alström syndrome
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(Orphanet:64)
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Atypical Gaucher disease due to saposin C deficiency
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(Orphanet:309252)
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Bardet-Biedl syndrome 1
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(OMIM:209900 )
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Cholesteryl ester storage disease
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(Orphanet:75234)
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Early-onset familial noncirrhotic portal hypertension
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(ORPHA:494348)
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FGFR2-related bent bone dysplasia
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(Orphanet:313855)
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Familial lipoprotein lipase deficiency
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(Orphanet:309015)
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Farber lipogranulomatosis
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(Orphanet:333)
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Fetal Gaucher disease
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(Orphanet:85212)
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GOLGI REASSEMBLY STACKING PROTEIN 1
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(OMIM:606867)
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Galactosialidosis
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(Orphanet:351)
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Gaucher disease - ophthalmoplegia - cardiovascular calcification
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(Orphanet:2072)
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Gaucher disease type 1
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(Orphanet:77259)
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Gaucher disease type 2
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(Orphanet:77260)
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Gaucher disease type 3
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(Orphanet:77261)
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Generalized congenital lipodystrophy with myopathy
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(Orphanet:228429)
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Glycogen storage disease due to glycogen branching enzyme deficiency
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(Orphanet:367)
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Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
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(Orphanet:308712)
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Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
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(Orphanet:308684)
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Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
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(Orphanet:308698)
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Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
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(Orphanet:308670)
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Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
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(Orphanet:308655)
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Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
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(Orphanet:308638)
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Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
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(Orphanet:308621)
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Glycogen storage disease due to glycogen debranching enzyme deficiency
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(Orphanet:366)
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Greenberg dysplasia
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(Orphanet:1426)
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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
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(OMIM:608898)
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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
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(OMIM:613101)
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Hemochromatosis type 3
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(Orphanet:225123)
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Hemochromatosis, type 2B
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(OMIM:613313)
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Hereditary North American Indian childhood cirrhosis
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(Orphanet:168583)
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Hereditary neutrophilia
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(Orphanet:279943)
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Hurler syndrome
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(Orphanet:93473)
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Hurler-Scheie syndrome
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(Orphanet:93476)
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Ichthyosis - hepatosplenomegaly - cerebellar degeneration
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(Orphanet:2274)
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Immunodeficiency due to CD25 deficiency
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(Orphanet:169100)
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LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
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(OMIM:612526)
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Lathosterolosis
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(Orphanet:46059)
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Lethal hemolytic anemia - genital anomalies
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(Orphanet:1046)
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Letterer-Siwe disease
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(Orphanet:99870)
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Lysosomal acid lipase deficiency
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(Orphanet:275761)
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McLeod neuroacanthocytosis syndrome
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(Orphanet:59306)
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Mucopolysaccharidosis type 1
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(Orphanet:579)
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Mucopolysaccharidosis type 2
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(Orphanet:580)
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Mucopolysaccharidosis type 2, attenuated form
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(Orphanet:217093)
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Mucopolysaccharidosis type 2, severe form
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(Orphanet:217085)
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Mulibrey nanism
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(Orphanet:2576)
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Neonatal hemochromatosis
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(Orphanet:446)
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Neonatal intrahepatic cholestasis due to citrin deficiency
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(Orphanet:247598)
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Nephronophthisis 19
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(OMIM:616217)
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Niemann-Pick disease type A
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(Orphanet:77292)
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Niemann-Pick disease type B
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(Orphanet:77293)
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Noonan syndrome
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(Orphanet:648)
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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
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(Orphanet:363972)
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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
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(OMIM:611490)
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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
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(OMIM:259710)
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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
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(OMIM:259730)
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Osteopetrosis with renal tubular acidosis
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(Orphanet:2785)
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PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
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(OMIM:614866)
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Pediatric systemic lupus erythematosus
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(Orphanet:93552)
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RETICULOENDOTHELIOSIS, X-LINKED
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(OMIM:312500)
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Sandhoff disease
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(Orphanet:796)
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Sandhoff disease, adult form
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(Orphanet:309169)
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Sandhoff disease, infantile form
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(Orphanet:309155)
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Sandhoff disease, juvenile form
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(Orphanet:309162)
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Scheie syndrome
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(Orphanet:93474)
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THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
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(OMIM:273680)
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Thrombocytopenia - absent radius
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(Orphanet:3320)
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Thymic aplasia
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(Orphanet:83471)
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Transaldolase deficiency
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(Orphanet:101028)
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Wolman disease
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(Orphanet:75233)
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Zellweger-like syndrome without peroxisomal anomalies
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(Orphanet:50812)
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