Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

ORPHA:51608

Autosomal recessive infantile hypercalcemia

Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1

ORPHA:300547

Bilateral striopallidodentate calcinosis

BSPDC · Cerebrovascular ferrocalcinosis

ORPHA:1980

Infantile choroidocerebral calcification syndrome

ORPHA:1313