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"

52 matching diseasesClear search ×

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

ORPHA:3464

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

ORPHA:3052

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

ORPHA:163956