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ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:617341
 alt_id: RDO:9001690
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Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        muscular disease 1129
          Muscle Spasticity 46
            Cerebroretinal Microangiopathy with Calcifications and Cysts 3
              Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            retinal disease 755
              retinal vascular disease 167
                retinal telangiectasia 14
                  Coats disease 9
                    Cerebroretinal Microangiopathy with Calcifications and Cysts 3
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.