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 ×

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

ORPHA:99749

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

ORPHA:51608

Infantile apnea

Apnea of infancy · Apnea in full-term infants

ORPHA:70590

Infantile myofibromatosis

ORPHA:2591