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ONTOLOGY REPORT - ANNOTATIONS


Term:Periventricular Nodular Heterotopia 2
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Accession:DOID:9002205 term browser browse the term
Synonyms:exact_synonym: ARPHM;   PVNH2;   Periventricular Heterotopia with Microcephaly, Autosomal Recessive;   Periventricular heterotopia, autosomal recessive
 primary_id: MESH:C564292
 alt_id: OMIM:608097;   RDO:0013309
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    physical disorder 755
      congenital nervous system abnormality 311
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 2 3
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                complex cortical dysplasia with other brain malformations 488
                  Malformations of Cortical Development, Group II 126
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.