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"

57 matching diseasesClear search ×

OBSOLETE: Torres-Aybar syndrome

ORPHA:3340

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

ORPHA:3362

OBSOLETE: Van den Bosch syndrome

ORPHA:3417

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

ORPHA:2745

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 mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

ORPHA:1131

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

ORPHA:383