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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 15590
    physical disorder 737
      congenital nervous system abnormality 298
        microcephaly 206
          Asparagine Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    microcephaly 206
                      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.