Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HOLT-ORAM SYNDROME
Synonyms	HEART-HAND SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/142900
altLabel	HEART-HAND SYNDROME HOS1 ATRIODIGITAL DYSPLASIA HOS
cui	C0265264
Gene Locus	12q24.1
Gene Symbol	TBX5
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005517 http://purl.bioontology.org/ontology/OMIM/MTHU017837 http://purl.bioontology.org/ontology/OMIM/MTHU017841 http://purl.bioontology.org/ontology/OMIM/MTHU017535 http://purl.bioontology.org/ontology/OMIM/MTHU000291 http://purl.bioontology.org/ontology/OMIM/MTHU017835 http://purl.bioontology.org/ontology/OMIM/MTHU017839 http://purl.bioontology.org/ontology/OMIM/MTHU027128 http://purl.bioontology.org/ontology/OMIM/MTHU008315 http://purl.bioontology.org/ontology/OMIM/MTHU017836 http://purl.bioontology.org/ontology/OMIM/MTHU017838 http://purl.bioontology.org/ontology/OMIM/MTHU017840 http://purl.bioontology.org/ontology/OMIM/MTHU017842 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU015116
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	142900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HOLT-ORAM SYNDROME
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0060468	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/MESH/C535326	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C535326	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI