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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:subcortical band heterotopia
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Accession:DOID:0111169 term browser browse the term
Definition:A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. (DO)
Synonyms:exact_synonym: BH;   DC syndrome;   HeCo;   band heterotopia;   band heterotopia of brain;   double cortex;   double cortex syndrome;   heterotopic cortex;   subcortical laminar heterotopia
 primary_id: MESH:C538475;   MESH:C563950
 alt_id: DOID:9006440;   OMIM:600348
 xref: NCI:C116933;   ORDO:99796
For additional species annotation, visit the Alliance of Genome Resources.

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subcortical band heterotopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) RGD PMID:10369164 RGD:12904717 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain ClinVar
OMIM		 PMID:24859200 PMID:28556411 NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10441340 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      congenital nervous system abnormality 523
        subcortical band heterotopia 3
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            disease of mental health 5991
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    syndromic intellectual disability 693
                      Mental Retardation, X-Linked 669
                        Classical Lissencephalies and Subcortical Band Heterotopias 5
                          subcortical band heterotopia 3
paths to the root