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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ethe1 ETHE1, persulfide dioxygenase ISO ClinVar Annotator: match by OMIM:602473
ClinVar Annotator: match by term: Ethylmalonic encephalopathy
OMIM
ClinVar
PMID:14732903, PMID:16183799, PMID:16828325, PMID:18593870, PMID:19136963, PMID:19289697, PMID:20528888, PMID:25198162, PMID:25326637, PMID:25741868, PMID:26194623, PMID:27391121, PMID:27830356, PMID:28492532, PMID:28933811, PMID:30311386, PMID:30349987, PMID:32860008 NCBI chr 1:81,457,008...81,472,061
Ensembl chr 1:81,456,984...81,472,097
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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
        mitochondrial metabolism disease 345
          ethylmalonic encephalopathy 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              ethylmalonic encephalopathy 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.