Digital medicine Outcomes Value Set (DOVeS) Ontology - hypertrophic osteoarthropathy, primary, autosomal recessive, 1 - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Synonyms	PDP, autosomal recessive Pho, autosomal recessive PHOAR1 Touraine-Solente-Gole syndrome Cranioosteoarthropathy familial idiopathic osteoarthropathy of childhood Currarino idiopathic osteoarthropathy pachydermoperiostosis, autosomal recessive primary hypertrophic osteoarthropathy caused by mutation in HPGD hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 HPGD primary hypertrophic osteoarthropathy
Definitions	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
ID	http://purl.obolibrary.org/obo/MONDO_0024546
altLabel	PDP, autosomal recessive Pho, autosomal recessive PHOAR1 Touraine-Solente-Gole syndrome Cranioosteoarthropathy familial idiopathic osteoarthropathy of childhood Currarino idiopathic osteoarthropathy pachydermoperiostosis, autosomal recessive primary hypertrophic osteoarthropathy caused by mutation in HPGD hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 HPGD primary hypertrophic osteoarthropathy
definition	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
has_exact_synonym	primary hypertrophic osteoarthropathy caused by mutation in HPGD hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 HPGD primary hypertrophic osteoarthropathy
has_related_synonym	PDP, autosomal recessive Pho, autosomal recessive PHOAR1 Touraine-Solente-Gole syndrome Cranioosteoarthropathy familial idiopathic osteoarthropathy of childhood Currarino idiopathic osteoarthropathy pachydermoperiostosis, autosomal recessive
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948
label	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
prefixIRI	MONDO:0024546
prefLabel	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
textual definition	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0016620

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0024546	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0024546	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0024546	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0024546	EFO	LOOM
	http://purl.bioontology.org/ontology/OMIM/259100	OMIM	LOOM