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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:Cerebroretinal Microangiopathy with Calcifications and Cysts 2
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Accession:DOID:9005983 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. (OMIM)
Synonyms:exact_synonym: CRMCC2
 primary_id: MIM:617341


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Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Cysts 300
        Central Nervous System Cysts 9
          Cerebroretinal Microangiopathy with Calcifications and Cysts 4
            Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              retinal disease 1401
                retinal vascular disease 216
                  retinal telangiectasia 16
                    Coats disease 11
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 4
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
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