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"

7 matching diseasesClear search ×

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

ORPHA:3411

Atypical Werner syndrome

Atypical progeroid syndrome

ORPHA:79474

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

ORPHA:99932

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

ORPHA:63261

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

ORPHA:652

Werner syndrome

Adult progeria · WS

ORPHA:902