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"

12 matching diseasesClear search ×

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

ORPHA:2697

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

ORPHA:107

Branchial arch or oral-acral syndrome

ORPHA:139036

Branchio-oculo-facial syndrome

BOFS

ORPHA:1297

Branchiootic syndrome

ORPHA:52429

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

ORPHA:1299

First branchial cleft anomaly

First branchial cleft cyst · First branchial cleft fistula

ORPHA:141013

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Genetic branchial arch or oral-acral syndrome

ORPHA:183576

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

ORPHA:1131