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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:Carpenter Syndrome 1
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Accession:DOID:9005101 term browser browse the term
Synonyms:exact_synonym: CRPT1;   RAB23-RELATED CONDITION
 primary_id: OMIM:201000


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Carpenter Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition OMIM
ClinVar		 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Carpenter syndrome 78
        Carpenter Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Skin and Connective Tissue Diseases 7532
        connective tissue disease 5794
          bone disease 4304
            bone development disease 2309
              dysostosis 582
                synostosis 380
                  syndactyly 148
                    acrocephalosyndactylia 88
                      Carpenter syndrome 78
                        Carpenter Syndrome 1 2
paths to the root