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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 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:23614640 RGD:7327203 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21596035 RGD:5683904 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TNF tumor necrosis factor ISO
IEP		 RGD PMID:15765524 PMID:8652010 RGD:1580604, RGD:12904655 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      cardiovascular system disease 16231
        vascular disease 12026
          cerebrovascular disease 2053
            periventricular leukomalacia 7
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        central nervous system disease 38426
          brain disease 36130
            cerebrovascular disease 2053
              periventricular leukomalacia 7
paths to the root