Experimental Factor Ontology - hypertrophic osteoarthropathy, primary, autosomal recessive, 1 - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: June 18, 2024

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Preferred Name	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Synonyms	PDP, autosomal recessive familial idiopathic osteoarthropathy of childhood Currarino idiopathic osteoarthropathy pachydermoperiostosis, autosomal recessive Pho, autosomal recessive Touraine-Solente-Gole syndrome Cranioosteoarthropathy PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy caused by mutation in HPGD 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
database_cross_reference	OMIM:259100 GARD:15216
definition	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
exactMatch	https://omim.org/entry/259100
has_exact_synonym	hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy caused by mutation in HPGD HPGD primary hypertrophic osteoarthropathy
has_related_synonym	PDP, autosomal recessive familial idiopathic osteoarthropathy of childhood Currarino idiopathic osteoarthropathy pachydermoperiostosis, autosomal recessive Pho, autosomal recessive Touraine-Solente-Gole syndrome Cranioosteoarthropathy PHOAR1
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0024546
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
notation	MONDO:0024546
preferred label	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
prefLabel	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
subClassOf	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	DOVES	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0024546	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0024546	DOVES	LOOM
	http://purl.bioontology.org/ontology/OMIM/259100	OMIM	LOOM