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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:Cavernous Malformations of CNS and Retina
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Accession:DOID:9008078 term browser browse the term
Synonyms:primary_id: MESH:C566152;   RDO:0014593
For additional species annotation, visit the Alliance of Genome Resources.


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Cavernous Malformations of CNS and Retina term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        Nervous System Malformations 1053
          Central Nervous System Vascular Malformations 37
            Cavernous Malformations of CNS and Retina 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4762
          Cardiovascular Abnormalities 1114
            Vascular Malformations 72
              Central Nervous System Vascular Malformations 37
                Cavernous Malformations of CNS and Retina 1
paths to the root