Lista chorób rzadkich*

370019 - Spondylometaphyseal dysplasia, Czarny-Ratajczak type

370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

370026 - Acute myeloid leukemia with t(8;16)(p11;p13) translocation

370034 - Familial syringomyelia

370039 - Angora hair nevus

370046 - Didymosis aplasticosebacea

370052 - SCALP syndrome

370059 - NEVADA syndrome

370068 - Fetal anticonvulsant syndrome

370076 - Fetal carbamazepine syndrome

370079 - Proximal 16p11.2 microduplication syndrome

370088 - Acute infantile liver failure-multisystemic involvement syndrome

370091 - Oculocutaneous albinism type 5

370097 - Oculocutaneous albinism type 6

370103 - Primary dystonia, DYT17 type

370106 - Rare disorder with dystonia and other neurologic or systemic manifestation

370109 - Ataxia-telangiectasia variant

370114 - Combined cervical dystonia

370127 - Medich giant platelet syndrome

370131 - White platelet syndrome

370334 - Extraskeletal Ewing sarcoma

370348 - Peripheral primitive neuroectodermal tumor

370396 - Small cell carcinoma of the ovary

370921 - STT3A-CDG

370924 - STT3B-CDG

370927 - SSR4-CDG

370930 - XYLT1-CDG

370933 - GM3 synthase deficiency

370938 - Salt-and-pepper syndrome

370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome

370953 - Congenital muscular dystrophy due to dystroglycanopathy

370959 - Congenital muscular dystrophy with cerebellar involvement

370968 - Congenital muscular dystrophy with intellectual disability

370980 - Congenital muscular dystrophy without intellectual disability

370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy

371007 - Congenital muscular dystrophy with hyperlaxity

371024 - Qualitative or quantitative defects of alpha-dystroglycan

371040 - Primary qualitative or quantitative defects of alpha-dystroglycan

371047 - Congenital disorder of glycosylation with neurological involvement

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

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

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

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

371207 - Congenital disorder of glycosylation with nephropathy as a major feature

371212 - Congenital disorder of glycosylation with deafness as a major feature

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

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