Rare Disease Library

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Autoimmune disease with skin involvement

Autoinflammatory syndrome with skin involvement

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

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 muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

Genetic autoinflammatory syndrome with skin involvement

Genetic immune deficiency with skin involvement

Immune deficiency with skin involvement

Metabolic disease with skin involvement

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

OBSOLETE: Myopathy with eye involvement

Other metabolic disease with skin involvement

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Rare developmental defect with skin/mucosae involvement

Systemic disease with skin involvement