Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP34977-6	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10050469	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/19092004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C535326	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10050469	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/5002-0020	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00906	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/19092004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.2	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10050469	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/C103172	MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_119968	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C103172	RH-MESH	LOOM