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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 1
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Accession:DOID:9003371 term browser browse the term
Synonyms:exact_synonym: CRMCC1;   CTC1-RELATED CONDITION;   Cerebroretinal microangiopathy with calcifications and cysts 1
 primary_id: OMIM:612199


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Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      Cysts 295
        Central Nervous System Cysts 9
          Cerebroretinal Microangiopathy with Calcifications and Cysts 4
            Cerebroretinal Microangiopathy with Calcifications and Cysts 1 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              retinal disease 1183
                retinal vascular disease 201
                  retinal telangiectasia 14
                    Coats disease 11
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 4
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 1 2
paths to the root