| Metadata | |
|---|---|
| ID | 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 |
SNOMEDCT_US_2023_03_01:723307008 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Neurodevelopmental delay disease has basis in some structural_variant has symptom some diarrhea |