hypertrophic osteoarthropathy, primary, autosomal recessive, 1
MONDO:0024546Mondo
Findings
No curated finding names hypertrophic osteoarthropathy, primary, autosomal recessive, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
Definition from the Mondo Disease Ontology (MONDO:0024546), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HPGDHGNC:5154
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: hypertrophic osteoarthropathy, primary, autosomal recessive, 1
- Also called
- HPGD primary hypertrophic osteoarthropathyhypertrophic osteoarthropathy, primary, autosomal recessive 1primary hypertrophic osteoarthropathy caused by mutation in HPGD