| Metadata | |
|---|---|
| ID | DOID:0080684 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080684 Copy |
| Name | diffuse midline glioma, H3 K27-altered |
| Definition | A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene. https://pmc.ncbi.nlm.nih.gov/articles/PMC8328013/, https://pmc.ncbi.nlm.nih.gov/articles/PMC9763979/, https://pubmed.ncbi.nlm.nih.gov/30800634/, https://pubmed.ncbi.nlm.nih.gov/31290035/ |
| Xrefs |
ICDO:9385/3 |
| SKOS |
exactMatch ICDO:9385/3 exactMatch NCI:C185368 exactMatch ORDO:723358 exactMatch UMLS_CUI:C5669877 narrowMatch GARD:0026785 broadMatch ICD10CM:C71.9 |
| Subsets |
DO_cancer_slim NCIthesaurus |
| Synonyms |
diffuse intrinsic pontine glioma [EXACT] diffuse midline glioma, H3 K27M-mutant [EXACT] |
| Parent Relationships |