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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:encephalomalacia
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Accession:DOID:2034 term browser browse the term
Definition:Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)
Synonyms:exact_synonym: Cerebromalacia;   Cerebromalacias;   Encephalomalacias;   Multicystic Encephalomalacia;   Multicystic Encephalomalacias
 primary_id: MESH:D004678;   RDO:0005472
 xref: NCI:C98920
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
periventricular leukomalacia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:23614640 RGD:7327203 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:30311386 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:21596035 RGD:5683904 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tnf tumor necrosis factor IDA
ISO
RGD PMID:15765524, PMID:8652010 RGD:1580604, RGD:12904655 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            encephalomalacia 7
              Encephalomalacia, Multilocular 0
              periventricular leukomalacia 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.