Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615542
http://purl.bioontology.org/ontology/OMIM/615542
Preferred Name

TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
Synonyms
TACHD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
TACHD
prefLabel
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
Gene Symbol
VSD1
GATA4
ASD2
TACHD
TOF
Scope Statement
One family reported (last curated November 2013) [MISCELLANEOUS]
Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0018) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU044569
http://purl.bioontology.org/ontology/OMIM/MTHU069727
http://purl.bioontology.org/ontology/OMIM/MTHU044573
http://purl.bioontology.org/ontology/OMIM/MTHU044565
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU001714
http://purl.bioontology.org/ontology/OMIM/MTHU037913
http://purl.bioontology.org/ontology/OMIM/MTHU008272
http://purl.bioontology.org/ontology/OMIM/MTHU069726
http://purl.bioontology.org/ontology/OMIM/MTHU044566
http://purl.bioontology.org/ontology/OMIM/MTHU044564
http://purl.bioontology.org/ontology/OMIM/MTHU044571
http://purl.bioontology.org/ontology/OMIM/MTHU044572
http://purl.bioontology.org/ontology/OMIM/MTHU037208
http://purl.bioontology.org/ontology/OMIM/MTHU044570
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU044567
http://purl.bioontology.org/ontology/OMIM/MTHU044568
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tui
T047
Gene Locus
8p23.1-p22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615542
Semantic type UMLS property
Has inheritance type
cui
C3809858
OMIM Entry Type
3
OMIM MimType Value
pound
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