Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617044
http://purl.bioontology.org/ontology/OMIM/617044
Preferred Name

SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
Synonyms
SDDHD
TKT DEFICIENCY
TRANSKETOLASE DEFICIENCY
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SDDHD
TKT DEFICIENCY
TRANSKETOLASE DEFICIENCY
prefLabel
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
Gene Symbol
TKT
SDDHD
Scope Statement
Caused by mutation in the transketolase gene (TKT, 606781.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU055734
http://purl.bioontology.org/ontology/OMIM/MTHU007399
http://purl.bioontology.org/ontology/OMIM/MTHU008439
http://purl.bioontology.org/ontology/OMIM/MTHU000504
http://purl.bioontology.org/ontology/OMIM/MTHU005697
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU022819
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU007292
http://purl.bioontology.org/ontology/OMIM/MTHU055730
http://purl.bioontology.org/ontology/OMIM/MTHU005305
http://purl.bioontology.org/ontology/OMIM/MTHU055733
http://purl.bioontology.org/ontology/OMIM/MTHU055732
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU070232
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU055723
http://purl.bioontology.org/ontology/OMIM/MTHU055735
http://purl.bioontology.org/ontology/OMIM/MTHU070231
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tui
T047
Gene Locus
3p14.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617044
Semantic type UMLS property
Has inheritance type
cui
C5700245
OMIM Entry Type
3
OMIM MimType Value
pound
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