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Summary Literature (0)
DOID:0060640 - ethylmalonic encephalopathy

Disease Ontology 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:

Referenced OMIM:
OMIM:602473 - ENCEPHALOPATHY, ETHYLMALONIC; EE

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ethe1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): genetic disease (is_a), mitochondrial metabolism disease (is_a)


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