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 ×

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

ORPHA:2768

Infantile apnea

Apnea of infancy · Apnea in full-term infants

ORPHA:70590

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860