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 ×

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

ORPHA:444

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

ORPHA:1023

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

ORPHA:2222

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

ORPHA:79495