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 ×

Neonatal diabetes mellitus

NDM · Congenital diabetes mellitus

ORPHA:224

Infantile apnea

Apnea of infancy · Apnea in full-term infants

ORPHA:70590

Intractable diarrhea of infancy

IDI

ORPHA:73014

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885