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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 (brefeldin A-inhibited) ISO
ISS		 ClinVar Annotator: match by term: Periventricular Heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544		 ClinVar
MouseDO		 NCBI chr 2:166,805,451...166,898,052
Ensembl chr 2:166,805,588...166,898,052 		JBrowse link
G Bag6 BCL2-associated athanogene 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr17:35,135,156...35,147,321
Ensembl chr17:35,135,178...35,147,322 		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:74,273,217...74,282,333
Ensembl chr  X:74,273,217...74,282,337 		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:74,254,674...74,261,563
Ensembl chr  X:74,261,032...74,261,374
Ensembl chr  X:74,261,032...74,261,374 		JBrowse link
G Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:15,041,551...15,090,045
Ensembl chr17:15,041,208...15,090,044 		JBrowse link
G Flna filamin, alpha ISO
IEA		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: X-linked periventricular heterotopia
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
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
MouseDO
CTD
OMIM		 PMID:3658675 PMID:8290091 PMID:9071288 PMID:9800904 PMID:9883725 PMID:10982489 PMID:10982965 PMID:11532987 PMID:11914408 PMID:12410386 PMID:12612583 PMID:14988809 PMID:15194946 PMID:15523633 PMID:15668422 PMID:15864382 PMID:15917206 PMID:15994863 PMID:16299064 PMID:16303888 PMID:16417552 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:17152064 PMID:17264970 PMID:17546640 PMID:17632775 PMID:18414213 PMID:18805826 PMID:18854860 PMID:20014127 PMID:20598277 PMID:20730588 PMID:20844545 PMID:21520333 PMID:21836662 PMID:21960593 PMID:22366253 PMID:22522697 PMID:23873601 PMID:24088041 PMID:24098143 PMID:25167861 PMID:25326637 PMID:25614868 PMID:25649377 PMID:25741868 PMID:25817843 PMID:26059211 PMID:26188975 PMID:26404489 PMID:26467025 PMID:26471271 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27193221 PMID:28133863 PMID:28425981 PMID:28428218 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29024177 PMID:29706646 PMID:30561107 PMID:30986657 PMID:31064749, PMID:9883725, PMID:23873601, PMID:11532987, PMID:22076441 RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820 		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 chr13:99,421,464...99,516,602
Ensembl chr13:99,421,446...99,516,540 		JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828 		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:74,270,816...74,273,135
Ensembl chr  X:74,270,812...74,273,135 		JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar PMID:17546640 PMID:24098143 PMID:25817843 PMID:28492532 NCBI chr  X:74,281,900...74,295,319
Ensembl chr  X:74,281,912...74,290,151 		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 (brefeldin A-inhibited) 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 2:166,805,451...166,898,052
Ensembl chr 2:166,805,588...166,898,052 		JBrowse link
G Dchs1 dachsous cadherin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 7:105,752,989...105,788,355
Ensembl chr 7:105,752,990...105,787,654 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985 		JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT		 ClinVar
CTD		 PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15668422 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:31064749 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820 		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 OMIM
ClinVar		 PMID:24056535 PMID:25741868 NCBI chr17:15,041,551...15,090,045
Ensembl chr17:15,041,208...15,090,044 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like 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 chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828 		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 chr11:59,211,412...59,228,267
Ensembl chr11:59,211,412...59,228,270 		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 OMIM
ClinVar		 PMID:25741868 PMID:29738522 PMID:30150678 PMID:31317654 NCBI chr13:99,421,464...99,516,602
Ensembl chr13:99,421,446...99,516,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13473
    physical disorder 2492
      congenital nervous system abnormality 527
        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 13473
    Developmental Diseases 9470
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8292
        genetic disease 7824
          monogenic disease 5718
            autosomal genetic disease 4871
              autosomal dominant disease 3153
                complex cortical dysplasia with other brain malformations 718
                  Malformations of Cortical Development, Group II 132
                    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