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"

7 matching diseasesClear search ×

Mosaic variegated aneuploidy syndrome

Warburton-Anyane-Yeboa syndrome

ORPHA:1052

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

ORPHA:157954

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

ORPHA:3214

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

ORPHA:800

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899