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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:periventricular leukomalacia
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Accession:DOID:13088 term browser browse the term
Definition:Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)
Synonyms:exact_synonym: Cystic Periventricular Leukomalacia;   Neonatal Cerebral Leukomalacia;   Neonatal Cerebral Leukomalacias;   Periventricular Encephalomalacia;   Periventricular Encephalomalacias;   Periventricular Leucomalacia;   Periventricular Leucomalacias;   cystic periventricular leukomalacias;   periventricular leukomalacias
 primary_id: MESH:D007969
 xref: EFO:1001101;   GARD:10285;   ICD10CM:P91.2;   ICD9CM:779.7;   NCI:C99013
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 Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:23614640 RGD:7327203 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:21596035 RGD:5683904 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tnf tumor necrosis factor IDA
ISO		 RGD PMID:15765524 PMID:8652010 RGD:1580604, RGD:12904655 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      cardiovascular system disease 5515
        vascular disease 4018
          cerebrovascular disease 996
            periventricular leukomalacia 7
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        central nervous system disease 12592
          brain disease 11818
            cerebrovascular disease 996
              periventricular leukomalacia 7
paths to the root