Online Mendelian Inheritance in Man - TRANSALDOLASE DEFICIENCY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

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

altLabel	EYAID SYNDROME TALDO DEFICIENCY TALDOD
prefLabel	TRANSALDOLASE DEFICIENCY
Gene Symbol	TALDO1
Scope Statement	Caused by mutation in the transaldolase-1 gene (TALDO1, 602063.0001) [MOLECULAR BASIS] Variable clinical presentation that may change with age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
tui	T047
Gene Locus	11p15.5-p15.4
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	606003
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1291329
OMIM Entry Type	3
OMIM MimType Value	pound

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