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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;   ASNS-RELATED CONDITION;   ASNSD
 primary_id: MIM:615574
 xref: NCI:C168586

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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 term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chrNW_004624813:4,642,420...4,661,362
Ensembl chrNW_004624813:4,641,372...4,661,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    physical disorder 4807
      congenital nervous system abnormality 1443
        microcephaly 1100
          Asparagine Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            autosomal genetic disease 9397
              autosomal dominant disease 6083
                complex cortical dysplasia with other brain malformations 1556
                  Malformations of Cortical Development, Group I 1329
                    microcephaly 1100
                      Asparagine Synthetase Deficiency 1
paths to the root