Pharos: hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (2 associated targets)

Disease Summary

Associated Targets (2)

Tchem

2

Mondo Description

Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.

Uniprot Description

A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature.

Mondo Term and Equivalent IDs

MONDO:0024546: hypertrophic osteoarthropathy, primary, autosomal recessive, 1

OMIM:259100: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1