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 ×

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Westerhof-Beemer-Cormane syndrome

ORPHA:2435

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

ORPHA:1237

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

ORPHA:1046

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

ORPHA:652

West syndrome

ORPHA:3451