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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 IAGP
EXP		 DNA:missense mutations, deletion:exon:multiple
ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... RGD:1300288 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G DCHS1 dachsous cadherin-related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G LOC130066080 ATAC-STARR-seq lymphoblastoid silent region 12991 IAGP ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive ClinVar PMID:25741868 NCBI chr20:48,921,782...48,921,881 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital nervous system abnormality 1968
        periventricular nodular heterotopia 91
          Periventricular Nodular Heterotopia 2 4
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                complex cortical dysplasia with other brain malformations 2173
                  Malformations of Cortical Development, Group II 247
                    periventricular nodular heterotopia 91
                      Periventricular Nodular Heterotopia 2 4
paths to the root