Rare Disease Library

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

Congenital disorder of glycosylation with neurological involvement

CDG with neurological involvement

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

Metabolic disease with skin involvement

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

OBSOLETE: Myopathy with eye involvement

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease

Systemic disease with skin involvement