OBO ID: DOID:0060640
Term Name: ethylmalonic encephalopathy Search Ontology:
Synonyms:
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. (3)
References:
Ontology: Human Disease   ( DOID:0060640 )
Relationships
is a type of:
OTHER ethylmalonic encephalopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ETHE1 Ethylmalonic encephalopathy 602473
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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