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"

5 matching diseasesClear search ×

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

ORPHA:95626

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

ORPHA:178029

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

ORPHA:30925