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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:Asparagine Synthetase Deficiency
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Accession:DOID:9002524 term browser browse the term
Synonyms:exact_synonym: ASNS Deficiency;   ASNSD
 primary_id: OMIM:615574;   RDO:9001001
For additional species annotation, visit the Alliance of Genome Resources.


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Asparagine Synthetase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by OMIM:615574
ClinVar Annotator: match by term: Asparagine synthetase deficiency
OMIM
ClinVar
PMID:24139043, PMID:25741868, PMID:25758715, PMID:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    physical disorder 982
      congenital nervous system abnormality 533
        microcephaly 431
          Asparagine Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    microcephaly 431
                      Asparagine Synthetase Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.