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 ×

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

Feingold syndrome

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

ORPHA:1305

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

ORPHA:391646

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

ORPHA:3255

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

ORPHA:2513

Microcephaly-microcornea syndrome, Seemanova type

Seemanova-Lesny syndrome

ORPHA:2528