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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:Cole-Carpenter Syndrome 1
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Accession:DOID:9009043 term browser browse the term
Definition:A syndrome characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. (OMIM)
Synonyms:exact_synonym: CLCRP1
 primary_id: OMIM:112240
 alt_id: RDO:9001399
For additional species annotation, visit the Alliance of Genome Resources.


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Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    syndrome 6198
      Cole-Carpenter syndrome 2
        Cole-Carpenter Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 12771
    disease of anatomical entity 12303
      musculoskeletal system disease 5217
        connective tissue disease 3620
          bone disease 3101
            bone development disease 1308
              dysostosis 336
                synostosis 222
                  craniosynostosis 168
                    Cole-Carpenter syndrome 2
                      Cole-Carpenter Syndrome 1 1
paths to the root