Online Mendelian Inheritance in Man - HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
Synonyms	PHO, AUTOSOMAL DOMINANT PHOAD PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT PDP, AUTOSOMAL DOMINANT
ID	http://purl.bioontology.org/ontology/OMIM/167100
altLabel	PHO, AUTOSOMAL DOMINANT PHOAD PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT PDP, AUTOSOMAL DOMINANT
cui	C2674695
Gene Locus	3q21
Gene Symbol	PGT OATP2A1 SLCO2A1 PHOAD SLC21A2 PHOAR2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000682 http://purl.bioontology.org/ontology/OMIM/MTHU011701 http://purl.bioontology.org/ontology/OMIM/MTHU027600 http://purl.bioontology.org/ontology/OMIM/MTHU072384 http://purl.bioontology.org/ontology/OMIM/MTHU053170 http://purl.bioontology.org/ontology/OMIM/MTHU072383 http://purl.bioontology.org/ontology/OMIM/MTHU054070 http://purl.bioontology.org/ontology/OMIM/MTHU072386 http://purl.bioontology.org/ontology/OMIM/MTHU072385 http://purl.bioontology.org/ontology/OMIM/MTHU014378 http://purl.bioontology.org/ontology/OMIM/MTHU007334 http://purl.bioontology.org/ontology/OMIM/MTHU072388 http://purl.bioontology.org/ontology/OMIM/MTHU072387 http://purl.bioontology.org/ontology/OMIM/MTHU016807 http://purl.bioontology.org/ontology/OMIM/MTHU037097 http://purl.bioontology.org/ontology/OMIM/MTHU005063 http://purl.bioontology.org/ontology/OMIM/MTHU036937 http://purl.bioontology.org/ontology/OMIM/MTHU072389 http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	167100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
Scope Statement	Females more mildly affected than males [MISCELLANEOUS] Caused by mutation in the solute carrier organic anion transporter family, member-2A1 gene (SLCO2A1, 601460.0001) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MSHFRE/D010004	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MESH/D010004	MESH	CUI
	http://purl.obolibrary.org/obo/MONDO_0008172	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0008172	DOVES	LOOM