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"

54 matching diseasesClear search ×

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

ORPHA:818

Thin ribs-tubular bones-dysmorphism syndrome

Sharma-Kapoor-Ramji syndrome

ORPHA:1506

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome

ORPHA:3472