ONTOLOGY REPORT - ANNOTATIONS


Term:adenylosuccinase lyase deficiency
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Accession:DOID:0050762 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)
Synonyms:exact_synonym: ADSL deficiency;   ADSLD;   Adenylosuccinase deficiency;   Adenylosuccinate lyase deficiency type 1;   Adenylosuccinate lyase deficiency type 2;   Adenylosuccinate lyase deficiency type 3;   Adenylosuccinate lyase deficiency type 4;   adenylosuccinate lyase deficiency;   succinylpurinemic autism
 primary_id: MESH:C538235;   RDO:0004188
 alt_id: OMIM:103050
 xref: GARD:550
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adenylosuccinase lyase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          purine-pyrimidine metabolic disorder 34
            adenylosuccinase lyase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                pervasive developmental disorder 1697
                  autism spectrum disorder 1692
                    autistic disorder 1570
                      adenylosuccinase lyase deficiency 1
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