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 ×

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136

Oculoauriculovertebral spectrum with radial defects

Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome

ORPHA:2549

Hemifacial hyperplasia

Hemifacial hypertrophy

ORPHA:141145

Hemifacial myohyperplasia

ORPHA:141148

Hemifacial spasm

Facial hemispasm · Focal myoclonus of face

ORPHA:221083

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

ORPHA:1214