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

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Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        muscular disease 908
          Muscle Spasticity 26
            Cerebroretinal Microangiopathy with Calcifications and Cysts 2
              Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          eye and adnexa disease 1995
            eye disease 1995
              retinal disease 724
                retinal vascular disease 163
                  retinal telangiectasia 13
                    Coats disease 8
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 2
                        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.