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 ×

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

ORPHA:2222

Amaurosis-hypertrichosis syndrome

ORPHA:1021

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

ORPHA:79146

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

ORPHA:2220