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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;   Cystic Periventricular Leukomalacias;   Neonatal Cerebral Leukomalacia;   Neonatal Cerebral Leukomalacias;   Periventricular Encephalomalacia;   Periventricular Encephalomalacias;   Periventricular Leucomalacia;   Periventricular Leucomalacias;   Periventricular Leukomalacias
 primary_id: MESH:D007969;   RDO:0006000
 xref: GARD:10285;   ICD10CM:P91.2;   ICD9CM:779.7;   NCI:C99013
For additional species annotation, visit the Alliance of Genome Resources.


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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 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 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          cerebrovascular disease 831
            periventricular leukomalacia 7
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebrovascular disease 831
              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.