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"

4 matching diseasesClear search ×

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Neonatal diabetes mellitus

NDM · Congenital diabetes mellitus

ORPHA:224

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

ORPHA:178029

Arginine vasopressin resistance

Nephrogenic diabetes insipidus

ORPHA:223