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. [ url:https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy url:https://www.ncbi.nlm.nih.gov/pubmed/20528888 url:https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term information
- GARD:2198
- ORDO:51188
- MIM:602473
- MESH:C535737
- UMLS_CUI:C1865349
- SNOMEDCT_US_2023_03_01:723307008
DO_rare_slim
Term relations
- mitochondrial metabolism disease
- disease has basis in some structural_variant
- has symptom some diarrhea
- has phenotype some Neurodevelopmental delay