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"

6 matching diseasesClear search ×

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

ORPHA:955

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

ORPHA:53

Autosomal dominant osteopetrosis type 1

ORPHA:2783

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

ORPHA:1798

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

ORPHA:2790

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

ORPHA:970