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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:Partial Agenesis of Corpus Callosum, X-Linked
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Accession:DOID:9006167 term browser browse the term
Synonyms:primary_id: MESH:C564115
 alt_id: OMIM:304100



show annotations for term's descendants           Sort by:
Partial Agenesis of Corpus Callosum, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7562969 PMID:7762552 PMID:7920659 PMID:8929944 PMID:9300653 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Pathological Conditions, Signs and Symptoms 13285
      Anatomical Pathological Conditions 2644
        Agenesis of Corpus Callosum 369
          Partial Agenesis of Corpus Callosum 4
            Partial Agenesis of Corpus Callosum, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        Congenital Abnormalities 7478
          Nervous System Malformations 2361
            Agenesis of Corpus Callosum 369
              Partial Agenesis of Corpus Callosum 4
                Partial Agenesis of Corpus Callosum, X-Linked 1
paths to the root