Search Ontology:
Human Disease

ethylmalonic encephalopathy

Term ID
DOID:0060640
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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