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"

59 matching diseasesClear search ×

OBSOLETE: Eyebrow/eyelashes distichiasis

ORPHA:98600

OBSOLETE: Eyebrow/eyelashes hypertrichosis

ORPHA:98595

OBSOLETE: Eyebrow/eyelashes pigmentation anomaly

ORPHA:98601

OBSOLETE: Eyebrow/eyelashes structural anomaly

ORPHA:98599

OBSOLETE: Eyelashes hypertrophy

OBSOLETE: Eyelashes polytrichia · OBSOLETE: Eyelashes trichomegalia

ORPHA:98597

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

ORPHA:2832

Sterol biosynthesis disorder

ORPHA:79195

Torg-Winchester syndrome

ORPHA:3460

Weill-Marchesani syndrome

ORPHA:3449

Hereditary elliptocytosis

HE

ORPHA:288