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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
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Accession:DOID:0050454 term browser browse the term
Definition:A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Synonyms:exact_synonym: BPNH;   Familial Nodular Heterotopia;   Familial Nodular Heterotopias;   Heterotopia, Periventricular, X-Linked Dominant;   NHBP;   PVNH1;   Periventricular Heterotopia;   Periventricular Heterotopias;   Periventricular Nodular Heterotopia 1;   Periventricular Nodular Heterotopias;   X-Linked Periventricular Heterotopia;   X-linked periventricular heterotopias;   bilateral periventricular nodular heterotopia
 narrow_synonym: HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA;   HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:D054091
 alt_id: OMIM:300049;   RDO:0004675;   RDO:0008543
 xref: OMIM:PS300049;   ORDO:98892
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
periventricular nodular heterotopia 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
ISS
ClinVar Annotator: match by term: Periventricular Heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
ClinVar
MouseDO
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:18854860 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Ermard ER membrane-associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
JBrowse link
G Flna filamin A ISO
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: X-linked periventricular heterotopia
DNA:deletion:cds:c.7941_7942delCT (human)
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300049
ClinVar
CTD
OMIM
RGD
PMID:3658675 PMID:8290091 PMID:9071288 PMID:9536098 PMID:9800904 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
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
RGD
PMID:12682315 PMID:14647276 PMID:18414213 PMID:23812912 PMID:25741868 More... RGD:1300288 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
CTD
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6
ClinVar Annotator: match by OMIM:615544
OMIM
ClinVar
PMID:24056535 PMID:25741868 NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 8 ClinVar
OMIM
PMID:25741868 PMID:28868155 NCBI chr10:43,997,983...44,014,543
Ensembl chr10:43,997,986...44,014,434
JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 9
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9
OMIM
ClinVar
PMID:25741868 PMID:29738522 PMID:30150678 PMID:31317654 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital nervous system abnormality 1043
        periventricular nodular heterotopia 13
          Periventricular Laminar Heterotopia 0
          Periventricular Nodular Heterotopia 2 3
          Periventricular Nodular Heterotopia 3 0
          Periventricular Nodular Heterotopia 4 1
          Periventricular Nodular Heterotopia 5 0
          Periventricular Nodular Heterotopia 6 1
          Periventricular Nodular Heterotopia 7 1
          Periventricular Nodular Heterotopia 8 1
          Periventricular Nodular Heterotopia 9 1
          Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group II 142
                    periventricular nodular heterotopia 13
                      Periventricular Laminar Heterotopia 0
                      Periventricular Nodular Heterotopia 2 3
                      Periventricular Nodular Heterotopia 3 0
                      Periventricular Nodular Heterotopia 4 1
                      Periventricular Nodular Heterotopia 5 0
                      Periventricular Nodular Heterotopia 6 1
                      Periventricular Nodular Heterotopia 7 1
                      Periventricular Nodular Heterotopia 8 1
                      Periventricular Nodular Heterotopia 9 1
                      Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
paths to the root