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hypertrophic osteoarthropathy, primary, autosomal recessive, 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
Uniprot Description A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.
Mondo Term and Equivalent IDs
MONDO:0013756:  hypertrophic osteoarthropathy, primary, autosomal recessive, 2
UMLS:C3280800: