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"

8 matching diseasesClear search ×

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

ORPHA:1517

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

ORPHA:228429

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

ORPHA:1023

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

ORPHA:528

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

ORPHA:2222

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

ORPHA:444

X-linked congenital generalized hypertrichosis

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

ORPHA:79495