Lista chorób rzadkich*

263458 - Hyperinsulinism due to INSR deficiency

263463 - CHST3-related skeletal dysplasia

263479 - Fuchs heterochromic iridocyclitis

263482 - Spondyloepiphyseal dysplasia, Maroteaux type

263487 - COG5-CDG

263494 - DPM3-CDG

263501 - COG4-CDG

263508 - COG1-CDG

263516 - Progressive myoclonic epilepsy type 3

263524 - Acute necrotizing encephalopathy of childhood

263534 - Acral peeling skin syndrome

263543 - Generalized peeling skin syndrome

263548 - Peeling skin syndrome type A

263553 - Peeling skin syndrome type B

263558 - OBSOLETE: Peeling skin syndrome type C

263662 - Familial multiple meningioma

263665 - NK-cell enteropathy

263676 - OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features

263708 - Complex chromosomal rearrangement

263711 - OBSOLETE: X chromosome anomaly

263714 - X chromosome number anomaly

263717 - X chromosome number anomaly with female phenotype

263720 - X chromosome number anomaly with male phenotype

263723 - Polysomy of X chromosome

263726 - Partial deletion of chromosome X

263731 - Partial deletion of the short arm of the chromosome X

263746 - Y chromosome number anomaly

263749 - X and Y chromosomal anomaly

263756 - Partial deletion of the long arm of chromosome X

263768 - Partial duplication of chromosome X

263775 - Partial duplication of the short arm of chromosome X

263783 - Partial duplication of the long arm of chromosome X

263793 - Uniparental disomy of chromosome X

263798 - OBSOLETE: Y chromosomal anomaly

264200 - 14q22q23 microdeletion syndrome

264431 - Partial duplication of the short arm of chromosome 1

264450 - Trisomy 8p

264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency

264656 - Interstitial lung disease specific to childhood

264665 - Primary interstitial lung disease specific to childhood

264670 - Primary interstitial lung disease specific to childhood due to alveolar structure disorder

264675 - Hereditary pulmonary alveolar proteinosis

264683 - Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

264688 - Congenital chylothorax

264691 - Isolated pulmonary capillaritis

264694 - Interstitial lung disease specific to infancy

264699 - Secondary interstitial lung disease specific to childhood associated with a systemic disease

264704 - Secondary interstitial lung disease specific to childhood associated with a connective tissue disease

264709 - Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

264714 - Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

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

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