Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243
JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 8:99,141,967...99,312,131 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    physical disorder 2791
      congenital nervous system abnormality 954
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 2 3
Path 2
Term Annotations click to browse term
  disease 13426
    Developmental Disease 9906
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8278
        genetic disease 7840
          monogenic disease 6015
            autosomal genetic disease 5226
              autosomal dominant disease 3545
                complex cortical dysplasia with other brain malformations 1147
                  Malformations of Cortical Development, Group II 134
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 2 3
paths to the root