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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Transaldolase Deficiency
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Accession:DOID:9000356 term browser browse the term
Definition:Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure. Transaldolase deficiency is caused by homozygous or compound heterozygous mutation in the TALDO1 gene on chromosome 11p15. (OMIM)
Synonyms:exact_synonym: Eyaid syndrome;   TALDO deficiency
 primary_id: MESH:C563207
 alt_id: OMIM:606003
For additional species annotation, visit the Alliance of Genome Resources.



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Transaldolase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: EYAID SYNDROME OMIM
ClinVar
PMID:10869557 PMID:11283793 PMID:15877206 PMID:18331807 PMID:22510381 More... NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          carbohydrate metabolic disorder 2562
            Transaldolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            carbohydrate metabolic disorder 2562
              Transaldolase Deficiency 1
paths to the root