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"

14 matching diseasesClear search ×

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

ORPHA:59303

Amaurosis-hypertrichosis syndrome

ORPHA:1021

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

ORPHA:330029

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Ichthyosis-male hypogonadism syndrome

ORPHA:431

IgG4-related sclerosing cholangitis

ORPHA:447764

Isolated neonatal sclerosing cholangitis

ORPHA:480556

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

ORPHA:281201

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

ORPHA:477

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

ORPHA:562639

Primary sclerosing cholangitis

PSC

ORPHA:171

Sclerosing cholangitis

ORPHA:447771

Secondary sclerosing cholangitis

ORPHA:447774