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"

10 matching diseasesClear search ×

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

ORPHA:966

Amaurosis-hypertrichosis syndrome

ORPHA:1021

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

ORPHA:1517

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

ORPHA:1375

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

ORPHA:2220

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

ORPHA:330029

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458