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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. (DO)
Synonyms:exact_synonym: EE;   Epema Syndrome;   encephalopathy, petechiae, and ethylmalonic aciduria;   syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
 xref: GARD:2198;   MESH:C535737;   MIM:602473;   MONDO:0011229;   ORDO:51188


show annotations for term's descendants           Sort by:
ethylmalonic encephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadm4 cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,075,163...80,097,423
Ensembl chr 1:80,075,202...80,097,423 		JBrowse link
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		JBrowse link
G Ceacam19 CEA cell adhesion molecule 19 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,542,107...79,550,927
Ensembl chr 1:79,542,107...79,550,927 		JBrowse link
G Ceacam20 CEA cell adhesion molecule 20 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,622,077...79,643,782
Ensembl chr 1:79,622,077...79,643,782 		JBrowse link
G Ethe1 ETHE1, persulfide dioxygenase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602473
ClinVar Annotator: match by term: Ethylmalonic encephalopathy		 OMIM
CTD
MouseDO
ClinVar		 PMID:2777167 PMID:9536098 PMID:14732903 PMID:16183799 PMID:16199547 More... NCBI chr 1:80,184,037...80,199,092
Ensembl chr 1:80,183,894...80,199,052 		JBrowse link
G Igsf23 immunoglobulin superfamily, member 23 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,591,059...79,606,323
Ensembl chr 1:79,592,088...79,610,438 		JBrowse link
G Irgc immunity related GTPase cinema ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,020,114...80,025,797
Ensembl chr 1:80,020,079...80,025,802 		JBrowse link
G Irgq immunity-related GTPase Q ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,123,925...80,131,881
Ensembl chr 1:80,123,925...80,131,881 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Lypd5 Ly6/Plaur domain containing 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,929,818...79,941,791
Ensembl chr 1:79,935,240...79,941,039 		JBrowse link
G Pinlyp phospholipase A2 inhibitor and Ly6/Plaur domain containing ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,134,642...80,140,488
Ensembl chr 1:80,134,643...80,139,996 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Pvr PVR cell adhesion molecule ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715 		JBrowse link
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254 		JBrowse link
G Srrm5 serine/arginine repetitive matrix 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,103,042...80,104,777
Ensembl chr 1:80,103,042...80,104,777 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Zfp111 zinc finger protein 111 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,762,897...79,774,274
Ensembl chr 1:79,762,782...79,775,608 		JBrowse link
G Zfp112 zinc finger protein 112 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,676,933...79,691,994
Ensembl chr 1:79,676,839...79,691,994 		JBrowse link
G Zfp180 zinc finger protein 180 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,652,441...79,672,737
Ensembl chr 1:79,652,441...79,672,733 		JBrowse link
G Zfp428 zinc finger protein 428 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,099,520...80,108,875
Ensembl chr 1:80,099,441...80,108,870 		JBrowse link
G Zfp575 zinc finger protein 575 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:80,175,016...80,177,176
Ensembl chr 1:80,175,016...80,177,123 		JBrowse link
G Zfp94 zinc finger protein 94 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,858,188...79,879,702
Ensembl chr 1:79,859,180...79,879,612 		JBrowse link
G Znf235 zinc finger protein 235 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,698,989...79,708,439
Ensembl chr 1:79,698,911...79,708,501 		JBrowse link
G Znf235-ps1 zinc finger protein 235, pseudogene 1 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 1:79,799,766...79,808,543
Ensembl chr 1:79,799,769...79,808,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        mitochondrial metabolism disease 817
          ethylmalonic encephalopathy 24
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            mitochondrial metabolism disease 817
              ethylmalonic encephalopathy 24
paths to the root