| Metadata | |
|---|---|
| ID | DOID:0070752 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070752 Copy |
| Name | neonatal severe encephalopathy with lactic acidosis and brain abnormalities |
| Definition | A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/28757203/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1269231008 |
| SKOS |
exactMatch MIM:617668 exactMatch ORDO:447795 exactMatch UMLS_CUI:C5681203 broadMatch ICD10CM:E88.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
lipoyl transferase 2 deficiency [EXACT] lipoyltransferase 2 deficiency [EXACT] NELABA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has feature some lactic acidosis |