Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614980
http://purl.bioontology.org/ontology/OMIM/614980
Preferred Name

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Synonyms
CHTD2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CHTD2
prefLabel
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Gene Symbol
CHTD2
TAB2
MAP3K7IP2
KIAA0733
Scope Statement
Skeletal features have been noted in 1 family [MISCELLANEOUS]
Caused by mutation in the TGF-beta activated kinase 1 binding protein 2 gene (TAB2, 605101.0001) [MOLECULAR BASIS]
Facial dysmorphism variably present [MISCELLANEOUS]
Variable cardiac phenotype [MISCELLANEOUS]
Fatigue [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU006249
http://purl.bioontology.org/ontology/OMIM/MTHU000186
http://purl.bioontology.org/ontology/OMIM/MTHU004921
http://purl.bioontology.org/ontology/OMIM/MTHU072620
http://purl.bioontology.org/ontology/OMIM/MTHU050858
http://purl.bioontology.org/ontology/OMIM/MTHU072611
http://purl.bioontology.org/ontology/OMIM/MTHU001469
http://purl.bioontology.org/ontology/OMIM/MTHU072624
http://purl.bioontology.org/ontology/OMIM/MTHU001174
http://purl.bioontology.org/ontology/OMIM/MTHU001652
http://purl.bioontology.org/ontology/OMIM/MTHU069196
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU050859
http://purl.bioontology.org/ontology/OMIM/MTHU072621
http://purl.bioontology.org/ontology/OMIM/MTHU037277
http://purl.bioontology.org/ontology/OMIM/MTHU005150
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU072619
http://purl.bioontology.org/ontology/OMIM/MTHU072610
http://purl.bioontology.org/ontology/OMIM/MTHU072603
http://purl.bioontology.org/ontology/OMIM/MTHU036370
http://purl.bioontology.org/ontology/OMIM/MTHU072617
http://purl.bioontology.org/ontology/OMIM/MTHU072623
http://purl.bioontology.org/ontology/OMIM/MTHU002342
http://purl.bioontology.org/ontology/OMIM/MTHU004733
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU001361
http://purl.bioontology.org/ontology/OMIM/MTHU011044
http://purl.bioontology.org/ontology/OMIM/MTHU005602
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU072604
http://purl.bioontology.org/ontology/OMIM/MTHU001802
http://purl.bioontology.org/ontology/OMIM/MTHU050861
http://purl.bioontology.org/ontology/OMIM/MTHU072607
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU072612
http://purl.bioontology.org/ontology/OMIM/MTHU072618
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU016483
http://purl.bioontology.org/ontology/OMIM/MTHU072615
http://purl.bioontology.org/ontology/OMIM/MTHU063971
http://purl.bioontology.org/ontology/OMIM/MTHU005669
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU069766
http://purl.bioontology.org/ontology/OMIM/MTHU072622
http://purl.bioontology.org/ontology/OMIM/MTHU072609
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU072608
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU003493
http://purl.bioontology.org/ontology/OMIM/MTHU009293
http://purl.bioontology.org/ontology/OMIM/MTHU072605
http://purl.bioontology.org/ontology/OMIM/MTHU010787
http://purl.bioontology.org/ontology/OMIM/MTHU050860
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU072606
http://purl.bioontology.org/ontology/OMIM/MTHU072614
http://purl.bioontology.org/ontology/OMIM/MTHU036724
http://purl.bioontology.org/ontology/OMIM/MTHU072616
http://purl.bioontology.org/ontology/OMIM/MTHU069195
http://purl.bioontology.org/ontology/OMIM/MTHU045573
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU017461
http://purl.bioontology.org/ontology/OMIM/MTHU037872
http://purl.bioontology.org/ontology/OMIM/MTHU009346
http://purl.bioontology.org/ontology/OMIM/MTHU072613
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU021006
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tui
T047
T019
Gene Locus
6q25
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614980
Semantic type UMLS property
Has inheritance type
cui
C3554279
OMIM Entry Type
3
OMIM MimType Value
pound
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