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ONTOLOGY REPORT - ANNOTATIONS


Term:Mitochondrial Complex I Deficiency, Nuclear Type 20
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Accession:DOID:9002076 term browser browse the term
Synonyms:exact_synonym: ACAD9 DEFICIENCY;   ACYL-CoA DEHYDROGENASE 9 DEFICIENCY;   Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of;   mitochondrial complex I deficiency due to ACAD9 deficiency
 primary_id: MESH:C567006
 alt_id: OMIM:611126;   RDO:0015196
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Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Pathological Conditions, Signs and Symptoms 8034
      Pathologic Processes 5202
        Muscle Weakness 73
          Mitochondrial Complex I Deficiency, Nuclear Type 20 3
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      cardiovascular system disease 4237
        vascular disease 3277
          artery disease 2224
            aortic disease 543
              aortic valve disease 253
                aortic valve stenosis 235
                  subvalvular aortic stenosis 194
                    hypertrophic cardiomyopathy 193
                      Mitochondrial Complex I Deficiency, Nuclear Type 20 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.