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DOID DOID:0060640
Name ethylmalonic encephalopathy
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.
https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy, https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy, https://www.ncbi.nlm.nih.gov/pubmed/20528888
Xrefs

GARD:2198

MESH:C535737

OMIM:602473

ORDO:51188

UMLS_CUI:C1865349

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is_a mitochondrial metabolism disease

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