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"

56 matching diseasesClear search ×

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

ORPHA:26792

Steroid dehydrogenase deficiency-dental anomalies syndrome

Lyngstadaas syndrome

ORPHA:3196

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

ORPHA:832

Syndrome with combined immunodeficiency

ORPHA:331217

Transverse limb deficiency-hemangioma syndrome

ORPHA:2486

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

ORPHA:329235

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2

ORPHA:538934