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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:Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
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Accession:DOID:9002502 term browser browse the term
Synonyms:exact_synonym: HDBSCC
 primary_id: OMIM:613730;   RDO:0009957
For additional species annotation, visit the Alliance of Genome Resources.


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Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by OMIM:613730
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
OMIM
ClinVar
PMID:21109224, PMID:23255084, PMID:25741868, PMID:25741869 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        hemorrhagic disease 610
          Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          eye disease 2592
            lens disease 220
              cataract 213
                Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 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.