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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:Trehalase Deficiency
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Accession:DOID:9001289 term browser browse the term
Synonyms:exact_synonym: ALPHA, ALPHA-TREHALASE DEFICIENCY;   Trehalose Intolerance
 primary_id: MESH:C562603;   RDO:0012247
 alt_id: OMIM:612119
For additional species annotation, visit the Alliance of Genome Resources.



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Trehalase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Treh trehalase ISO ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency OMIM
ClinVar
PMID:28406212 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Pathological Conditions, Signs and Symptoms 11282
      Signs and Symptoms 7227
        Digestive Signs and Symptoms 129
          diarrhea 56
            Trehalase 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
              Trehalase Deficiency 1
paths to the root