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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:304100
ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked
OMIM
ClinVar
PMID:8929944, PMID:16650080, PMID:25741868, PMID:29706646 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Anatomical Pathological Conditions 1525
        Agenesis of Corpus Callosum 142
          Partial Agenesis of Corpus Callosum, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              Partial Agenesis of Corpus Callosum, X-Linked 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.