Online Mendelian Inheritance in Man - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Synonyms	HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT
ID	http://purl.bioontology.org/ontology/OMIM/193100
altLabel	HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT ADHR VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
cui	C0342642
Gene Locus	12p13.3
Gene Symbol	FGF23 HPDR2 PHPTC ADHR
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU015039 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU041655 http://purl.bioontology.org/ontology/OMIM/MTHU015050 http://purl.bioontology.org/ontology/OMIM/MTHU007494 http://purl.bioontology.org/ontology/OMIM/MTHU015040 http://purl.bioontology.org/ontology/OMIM/MTHU015046 http://purl.bioontology.org/ontology/OMIM/MTHU027543 http://purl.bioontology.org/ontology/OMIM/MTHU007357 http://purl.bioontology.org/ontology/OMIM/MTHU015042 http://purl.bioontology.org/ontology/OMIM/MTHU015052 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU000572 http://purl.bioontology.org/ontology/OMIM/MTHU015043 http://purl.bioontology.org/ontology/OMIM/MTHU015041 http://purl.bioontology.org/ontology/OMIM/MTHU041656 http://purl.bioontology.org/ontology/OMIM/MTHU005592 http://purl.bioontology.org/ontology/OMIM/MTHU015047 http://purl.bioontology.org/ontology/OMIM/MTHU015051 http://purl.bioontology.org/ontology/OMIM/MTHU007493 http://purl.bioontology.org/ontology/OMIM/MTHU015045 http://purl.bioontology.org/ontology/OMIM/MTHU027544 http://purl.bioontology.org/ontology/OMIM/MTHU007511
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	193100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C562791	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C562791	Medical Subject Headings	LOOM