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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:
OMIM:602473 - ENCEPHALOPATHY, ETHYLMALONIC; EE |
MONDO:0011229 - ethylmalonic encephalopathy |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD