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 ×

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

ORPHA:2850

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

ORPHA:2998

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

ORPHA:1359

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

ORPHA:3082