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"

3 matching diseasesClear search ×

Autosomal recessive infantile hypercalcemia

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

ORPHA:300547

Idiopathic intracranial hypertension

Benign intracranial hypertension · IIH

ORPHA:238624

COG8-CDG

CDG syndrome type IIh · CDG-IIh

ORPHA:95428