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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/606003
http://purl.bioontology.org/ontology/OMIM/606003
Preferred Name

TRANSALDOLASE DEFICIENCY
Synonyms
EYAID SYNDROME
TALDO DEFICIENCY
TALDOD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EYAID SYNDROME
TALDO DEFICIENCY
TALDOD
prefLabel
TRANSALDOLASE DEFICIENCY
Gene Symbol
TALDO1
notation
606003
Scope Statement
Caused by mutation in the transaldolase-1 gene (TALDO1, 602063.0001) [MOLECULAR BASIS]
Variable clinical presentation that may change with age [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU031839
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU068498
http://purl.bioontology.org/ontology/OMIM/MTHU000253
http://purl.bioontology.org/ontology/OMIM/MTHU014557
http://purl.bioontology.org/ontology/OMIM/MTHU049818
http://purl.bioontology.org/ontology/OMIM/MTHU068497
http://purl.bioontology.org/ontology/OMIM/MTHU005728
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU000565
http://purl.bioontology.org/ontology/OMIM/MTHU049820
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU002115
http://purl.bioontology.org/ontology/OMIM/MTHU005305
http://purl.bioontology.org/ontology/OMIM/MTHU003537
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU002104
http://purl.bioontology.org/ontology/OMIM/MTHU008529
http://purl.bioontology.org/ontology/OMIM/MTHU008022
http://purl.bioontology.org/ontology/OMIM/MTHU049816
http://purl.bioontology.org/ontology/OMIM/MTHU013529
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU012652
http://purl.bioontology.org/ontology/OMIM/MTHU049815
http://purl.bioontology.org/ontology/OMIM/MTHU068496
http://purl.bioontology.org/ontology/OMIM/MTHU001564
http://purl.bioontology.org/ontology/OMIM/MTHU036683
http://purl.bioontology.org/ontology/OMIM/MTHU012276
http://purl.bioontology.org/ontology/OMIM/MTHU036334
http://purl.bioontology.org/ontology/OMIM/MTHU049817
http://purl.bioontology.org/ontology/OMIM/MTHU030490
http://purl.bioontology.org/ontology/OMIM/MTHU049299
http://purl.bioontology.org/ontology/OMIM/MTHU002075
http://purl.bioontology.org/ontology/OMIM/MTHU068500
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU002670
http://purl.bioontology.org/ontology/OMIM/MTHU068499
http://purl.bioontology.org/ontology/OMIM/MTHU045638
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
11p15.5-p15.4
tui
T047
cui
C1291329
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