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"

9 matching diseasesClear search ×

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

ORPHA:650

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

ORPHA:673538

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

ORPHA:90790

Long chain acyl-CoA dehydrogenase deficiency

LCAD

ORPHA:99900

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

ORPHA:109

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

ORPHA:159

Familial LCAT deficiency

Complete LCAT deficiency · FLD

ORPHA:79293

Ruvalcaba syndrome

ORPHA:3121

Laryngotracheoesophageal cleft

Laryngo-tracheo-esophageal cleft · LC

ORPHA:2004