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"

8 matching diseasesClear search ×

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

ORPHA:1305

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

ORPHA:391641

Achalasia-microcephaly syndrome

ORPHA:929

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

ORPHA:77298

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

ORPHA:66629

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

ORPHA:2513

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

ORPHA:506307