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"

6 matching diseasesClear search ×

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

ORPHA:2515

Hereditary acrokeratotic poikiloderma

Weary syndrome

ORPHA:2907

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

ORPHA:3433

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

ORPHA:3434

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

ORPHA:3026

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

ORPHA:3246