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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:Hypoadiponectinemia
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Accession:DOID:9006191 term browser browse the term
Synonyms:exact_synonym: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;   ADIPQTL1
 narrow_synonym: ADIPONECTIN DEFICIENCY
 primary_id: MESH:C567258;   RDO:0015379
 alt_id: OMIM:612556
For additional species annotation, visit the Alliance of Genome Resources.



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Hypoadiponectinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
ClinVar
OMIM
PMID:10918532 PMID:12878598 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Hypoadiponectinemia 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Hypoadiponectinemia 1
paths to the root