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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    physical disorder 761
      congenital nervous system abnormality 326
        microcephaly 219
          Asparagine Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                complex cortical dysplasia with other brain malformations 524
                  Malformations of Cortical Development, Group I 374
                    microcephaly 219
                      Asparagine Synthetase Deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.