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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
 xref: NCI:C168586
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:26395554 PMID:27469131 PMID:27522229 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29375865 PMID:29405484 PMID:32255274 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 16937
    physical disorder 2960
      congenital nervous system abnormality 978
        microcephaly 873
          Asparagine Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                complex cortical dysplasia with other brain malformations 1164
                  Malformations of Cortical Development, Group I 1024
                    microcephaly 873
                      Asparagine Synthetase Deficiency 1
paths to the root