Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	ATRIAL SEPTAL DEFECT 2
Synonyms	ASD2
ID	http://purl.bioontology.org/ontology/OMIM/607941
altLabel	ASD2
cui	C1842778
Gene Locus	8p23.1-p22
Gene Symbol	VSD1 GATA4 ASD2 TACHD TOF
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU041724 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU033632 http://purl.bioontology.org/ontology/OMIM/MTHU068621
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607941
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ATRIAL SEPTAL DEFECT 2
Scope Statement	Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0001) [MOLECULAR BASIS]
tui	T047 T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C538263	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0011938	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011938	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_607941	CCO	LOOM
http://identifiers.org/omim/607941	REXO	LOOM
http://identifiers.org/omim/607941	GEXO	LOOM
http://identifiers.org/omim/607941	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C538263	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538263	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011938	DOVES	LOOM