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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 4
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Accession:DOID:9005082 term browser browse the term
Synonyms:exact_synonym: PVNH4;   Periventricular heterotopia, Ehlers-Danlos variant
 primary_id: MESH:C564492
 alt_id: MIM:300537;   RDO:0013438


show annotations for term's descendants           Sort by:
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 		CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital nervous system abnormality 1537
        periventricular nodular heterotopia 72
          Periventricular Nodular Heterotopia 4 9
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group II 206
                periventricular nodular heterotopia 72
                  Periventricular Nodular Heterotopia 4 9
paths to the root