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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 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


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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: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... 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
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital nervous system abnormality 1473
        periventricular nodular heterotopia 73
          Periventricular Nodular Heterotopia 2 3
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                complex cortical dysplasia with other brain malformations 1564
                  Malformations of Cortical Development, Group II 184
                    periventricular nodular heterotopia 73
                      Periventricular Nodular Heterotopia 2 3
paths to the root