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"

9 matching diseasesClear search ×

Ablepharon macrostomia syndrome

AMS

ORPHA:920

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974

Factor V Amsterdam bleeding disorder

FV Amsterdam bleeding disorder

ORPHA:599579

OBSOLETE: Ramsay Hunt syndrome type II

ORPHA:412220

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

ORPHA:3020

Weaver-Williams syndrome

ORPHA:3448

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Williams-Campbell syndrome

ORPHA:411501