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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:8554872
RGD:13592920
G Bag6 BCL2-associated athanogene 6 JBrowse link 20 5,124,512 5,138,084 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Ermard ER membrane-associated RNA degradation JBrowse link 1 56,982,742 57,008,076 RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:1598953
RGD:8554872
RGD:11565137
RGD:11565112
RGD:11564351
RGD:11554173
RGD:7240710
G Map1b microtubule-associated protein 1B JBrowse link 2 29,675,391 29,768,750 RGD:8554872
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:7240710
RGD:8554872
RGD:1300288
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:11554173
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermard ER membrane-associated RNA degradation JBrowse link 1 56,982,742 57,008,076 RGD:7240710
RGD:8554872
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872
RGD:7240710
PERIVENTRICULAR NODULAR HETEROTOPIA 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arf1 ADP-ribosylation factor 1 JBrowse link 10 45,562,700 45,579,214 RGD:8554872
RGD:7240710
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        periventricular nodular heterotopia 13
          PERIVENTRICULAR NODULAR HETEROTOPIA 8 1
          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 with Syndactyly, Cleft Palate and Developmental Delay 1
          Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group II 125
                    periventricular nodular heterotopia 13
                      PERIVENTRICULAR NODULAR HETEROTOPIA 8 1
                      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 with Syndactyly, Cleft Palate and Developmental Delay 1
                      Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
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.