DO_rare_slim has phenotype has symptom disease has basis in ethylmalonic encephalopathy MESH:C535737 ORDO:51188 disease_ontology UMLS_CUI:C1865349 MIM:602473 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. SNOMEDCT_US_2025_09_01:723307008 DOID:0060640 GARD:2198 mitochondrial metabolism disease Neurodevelopmental delay structural_variant diarrhea