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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 nodular heterotopia
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Accession:DOID:0050454 term browser browse the term
Definition:A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Synonyms:exact_synonym: BPNH;   Familial Nodular Heterotopia;   Familial Nodular Heterotopias;   Heterotopia, Periventricular, X-Linked Dominant;   NHBP;   PVNH1;   Periventricular Heterotopia;   Periventricular Heterotopias;   Periventricular Nodular Heterotopia 1;   Periventricular Nodular Heterotopias;   X-Linked Periventricular Heterotopia;   X-linked periventricular heterotopias;   bilateral periventricular nodular heterotopia
 narrow_synonym: HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA;   HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:D054091
 alt_id: OMIM:300049;   RDO:0004675;   RDO:0008543
 xref: OMIM:PS300049;   ORDO:98892
For additional species annotation, visit the Alliance of Genome Resources.


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periventricular nodular heterotopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular Heterotopia ClinVar NCBI chrNW_004955445:9,069,803...9,153,746
Ensembl chrNW_004955445:9,070,234...9,153,213
JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chrNW_004955437:176,848...188,243
Ensembl chrNW_004955437:176,797...188,003
JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:18854860 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
JBrowse link
G Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955411:3,838,125...3,866,282
Ensembl chrNW_004955411:3,835,751...3,865,321
JBrowse link
G Flna filamin A ISO OMIM NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
JBrowse link
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chrNW_004955575:914,607...1,020,971
Ensembl chrNW_004955575:913,723...1,021,028
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO OMIM NCBI chrNW_004955445:9,069,803...9,153,746
Ensembl chrNW_004955445:9,070,234...9,153,213
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004955414:22,331,590...22,365,761
Ensembl chrNW_004955414:22,332,059...22,351,576
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
CTD
ClinVar
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:31064749 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermard ER membrane associated RNA degradation ISO OMIM NCBI chrNW_004955411:3,838,125...3,866,282
Ensembl chrNW_004955411:3,835,751...3,865,321
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO OMIM NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714
JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP ribosylation factor 1 ISO OMIM NCBI chrNW_004955581:319,942...335,112
Ensembl chrNW_004955581:319,942...335,112
JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule associated protein 1B ISO OMIM NCBI chrNW_004955575:914,607...1,020,971
Ensembl chrNW_004955575:913,723...1,021,028
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    physical disorder 2302
      congenital nervous system abnormality 494
        periventricular nodular heterotopia 13
          Periventricular Laminar Heterotopia 0
          Periventricular Nodular Heterotopia 2 3
          Periventricular Nodular Heterotopia 3 0
          Periventricular Nodular Heterotopia 4 1
          Periventricular Nodular Heterotopia 5 0
          Periventricular Nodular Heterotopia 6 1
          Periventricular Nodular Heterotopia 7 1
          Periventricular Nodular Heterotopia 8 1
          Periventricular Nodular Heterotopia 9 1
          Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8481
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7457
        genetic disease 7032
          monogenic disease 5205
            autosomal genetic disease 4492
              autosomal dominant disease 2911
                complex cortical dysplasia with other brain malformations 677
                  Malformations of Cortical Development, Group II 121
                    periventricular nodular heterotopia 13
                      Periventricular Laminar Heterotopia 0
                      Periventricular Nodular Heterotopia 2 3
                      Periventricular Nodular Heterotopia 3 0
                      Periventricular Nodular Heterotopia 4 1
                      Periventricular Nodular Heterotopia 5 0
                      Periventricular Nodular Heterotopia 6 1
                      Periventricular Nodular Heterotopia 7 1
                      Periventricular Nodular Heterotopia 8 1
                      Periventricular Nodular Heterotopia 9 1
                      Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
paths to the root