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 ×

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

ORPHA:1214

Hemifacial hyperplasia

Hemifacial hypertrophy

ORPHA:141145

Hemifacial spasm

Facial hemispasm · Focal myoclonus of face

ORPHA:221083

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136