Online Mendelian Inheritance in Man - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
Synonyms	CHNG5
ID	http://purl.bioontology.org/ontology/OMIM/225250
altLabel	CHNG5
cui	C2673630
Gene Locus	5q34
Gene Symbol	NKX2E CHNG5 CSX VSD3 HLHS2 NKX2-5
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU027956 http://purl.bioontology.org/ontology/OMIM/MTHU023435 http://purl.bioontology.org/ontology/OMIM/MTHU023432 http://purl.bioontology.org/ontology/OMIM/MTHU022903 http://purl.bioontology.org/ontology/OMIM/MTHU023433 http://purl.bioontology.org/ontology/OMIM/MTHU023434 http://purl.bioontology.org/ontology/OMIM/MTHU022904 http://purl.bioontology.org/ontology/OMIM/MTHU022902
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	225250
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567123	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567123	Medical Subject Headings	LOOM