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"

104 matching diseasesClear search ×

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377

Uncombable hair syndrome

Pili trianguli et canaliculi

ORPHA:1410

W syndrome

Pallister-W syndrome

ORPHA:2804

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469