FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ethylmalonic encephalopathy ID (Ontology) DOID:0060640 (Human Disease)
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.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 ethylmalonic encephalopathy       1      1
 for disease ribbon | ethylmalonic encephalopathy       --       1
 model of | ethylmalonic encephalopathy       1      1
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  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__ethylmalonic encephalopathy  2 rec.
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Is a mitochondrial metabolism disease
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GARD:2198
MESH:C535737
MIM:602473
ORDO:51188
SNOMEDCT_US_2023_03_01:723307008
UMLS_CUI:C1865349