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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
 primary_id: OMIM:201000
 alt_id: RDO:0012551
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Carpenter syndrome 3
        Carpenter Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Skin and Connective Tissue Diseases 4958
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              dysostosis 338
                synostosis 228
                  craniosynostosis 173
                    acrocephalosyndactylia 8
                      Carpenter syndrome 3
                        Carpenter Syndrome 1 2
paths to the root