loading...| Preferred Name |
primary hypertrophic osteoarthropathy |
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| Synonyms |
PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PHO hypertrophic osteoarthropathy, primary PDP idiopathic hypertrophic osteoarthropathy pachydermoperiostosis of nail Touraine Solente Gole syndrome Touraine-Solente-Gole syndrome pachydermoperiostosis syndrome hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary pachydermoperiostosis pachydermoperiostosis of nail [ambiguous] |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016620 |
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| altLabel |
PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PHO hypertrophic osteoarthropathy, primary PDP idiopathic hypertrophic osteoarthropathy pachydermoperiostosis of nail Touraine Solente Gole syndrome Touraine-Solente-Gole syndrome pachydermoperiostosis syndrome hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary pachydermoperiostosis pachydermoperiostosis of nail [ambiguous] |
|
| definition |
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. |
|
| has_exact_synonym |
PHO hypertrophic osteoarthropathy, primary PDP idiopathic hypertrophic osteoarthropathy pachydermoperiostosis of nail Touraine Solente Gole syndrome Touraine-Solente-Gole syndrome pachydermoperiostosis syndrome hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary pachydermoperiostosis pachydermoperiostosis of nail [ambiguous] |
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| has_related_synonym |
PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 |
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| IAO_0000233 | ||
| label |
primary hypertrophic osteoarthropathy |
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| prefixIRI |
MONDO:0016620 |
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| prefLabel |
primary hypertrophic osteoarthropathy |
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| textual definition |
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. |
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| subClassOf |