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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:Lissencephaly and Agenesis of Corpus Callosum
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Accession:DOID:9001379 term browser browse the term
Synonyms:exact_synonym: Subcortical laminar heterotopia, X-linked
 primary_id: MESH:C531731;   RDO:0000150


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Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Anatomical Pathological Conditions 2475
        Agenesis of Corpus Callosum 369
          Lissencephaly and Agenesis of Corpus Callosum 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              developmental disorder of mental health 5547
                specific developmental disorder 4510
                  intellectual disability 4322
                    X-Linked Intellectual Developmental Disorders 836
                      Classical Lissencephalies and Subcortical Band Heterotopias 6
                        Lissencephaly and Agenesis of Corpus Callosum 1
paths to the root