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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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adenylosuccinase lyase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by OMIM:103050
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency
OMIM
ClinVar
CTD
PMID:1302001, PMID:6150139, PMID:8598641, PMID:9197470, PMID:9266401, PMID:9545543, PMID:10090474, PMID:10888601, PMID:10958654, PMID:12016589, PMID:12070256, PMID:12368987, PMID:12833398, PMID:15571235, PMID:15571240, PMID:16403972, PMID:16839792, PMID:17188615, PMID:18524658, PMID:18830228, PMID:19405474, PMID:20127976, PMID:20175147, PMID:20177786, PMID:20884265, PMID:20933180, PMID:21210713, PMID:22180458, PMID:22812634, PMID:23504561, PMID:23714113, PMID:24033266, PMID:24781210, PMID:25112391, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27504266, PMID:28487569, PMID:28492532, PMID:28559277, PMID:30311386 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          purine-pyrimidine metabolic disorder 35
            adenylosuccinase lyase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                pervasive developmental disorder 1818
                  autism spectrum disorder 1813
                    autistic disorder 1661
                      adenylosuccinase lyase 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.