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ONTOLOGY REPORT - ANNOTATIONS


Term:MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY
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Accession:DOID:9003746 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. (OMIM)
Synonyms:exact_synonym: ECHS1D
 primary_id: OMIM:616277;   RDO:9001682
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MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            Metabolic Brain Diseases 472
              Metabolic Brain Diseases, Inborn 406
                Leigh disease 48
                  MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 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.