Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 ClinVar Annotator: match by term: Heterotopia, periventricular, autosomal recessive
DNA:missense mutations, deletion:exon:multiple
ClinVar Annotator: match by OMIM:608097
OMIM
ClinVar
PMID:14647276 PMID:18414213 PMID:23812912 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532, PMID:14647276 RGD:1300288 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      congenital nervous system abnormality 523
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 2 3
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal dominant disease 3159
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group II 137
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 2 3
paths to the root