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 ×

X-linked severe syndromic thoracic aortic aneurysm and dissection

Meester-Loeys syndrome · X-linked severe syndromic TAAD

ORPHA:622925

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

ORPHA:293707

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

ORPHA:59306

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

ORPHA:281090

X-linked Alport syndrome

ORPHA:88917

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088

X-linked ichthyosis syndrome

ORPHA:281210

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

ORPHA:383