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"

200 matching diseasesClear search ×

Usher syndrome type 3

USH3

ORPHA:231183

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

ORPHA:1018

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

ORPHA:456328

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476

Xp22.3 microdeletion syndrome

Del(X)(p23)

ORPHA:1643

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435