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"

52 matching diseasesClear search ×

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

ORPHA:3404

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

ORPHA:3408

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899