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ONTOLOGY REPORT - ANNOTATIONS


Term:ethylmalonic encephalopathy
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Accession:DOID:0060640 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
Synonyms:exact_synonym: EE;   Encephalopathy, Petechiae, and Ethylmalonic Aciduria;   Epema Syndrome;   Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
 primary_id: MESH:C535737;   RDO:0001024
 alt_id: OMIM:602473
 xref: GARD:2198;   ORDO:51188
For additional species annotation, visit the Alliance of Genome Resources.


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ethylmalonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ethe1 ETHE1, persulfide dioxygenase JBrowse link 1 81,457,008 81,472,061 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          ethylmalonic encephalopathy 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            mitochondrial metabolism disease 310
              ethylmalonic encephalopathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.