Primary hypertrophic osteoarthropathy

rare

A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.

Identifiers: MONDO:0016620 Orphanet:248095 Orphanet:2796
Part of: Hereditary disease Syndromic disease
Also known as: hypertrophic osteoarthropathy, primary · hypertrophic osteoarthropathy, primary, autosomal recessive, 1 · hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 · hypertropic osteoarthropathy, primary · idiopathic hypertrophic osteoarthropathy

Subtypes

All diseases Rare only

Disease	ID	Genes
Cranio-osteoarthropathy	MONDO:0015466
Hypertrophic osteoarthropathy, primary, autosomal dominant	MONDO:0008172	SLCO2A1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	MONDO:0024546	HPGD
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	MONDO:0013756	SLCO2A1

Rare disease

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