Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	T-BOX 5
Synonyms	HOLT-ORAM SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/601620
altLabel	HOLT-ORAM SYNDROME TBX5
cui	C1420615 C0265264
Gene Locus	12q24.1
Gene Symbol	TBX5
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601620.0002 http://purl.bioontology.org/ontology/OMIM/601620.0010 http://purl.bioontology.org/ontology/OMIM/601620.0003 http://purl.bioontology.org/ontology/OMIM/601620.0001 http://purl.bioontology.org/ontology/OMIM/601620.0008 http://purl.bioontology.org/ontology/OMIM/601620.0009 http://purl.bioontology.org/ontology/OMIM/601620.0006 http://purl.bioontology.org/ontology/OMIM/601620.0004 http://purl.bioontology.org/ontology/OMIM/601620.0005 http://purl.bioontology.org/ontology/OMIM/601620.0007
MIMTYPEMEANING	Gene with known sequence
notation	601620
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	T-BOX 5
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP34977-6	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/C535326	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI