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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
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Accession:DOID:0060438 term browser browse the term
Definition:An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)
Synonyms:exact_synonym: bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
 primary_id: MESH:C535963
 xref: MIM:PS112240;   NCI:C130985;   ORDO:2050


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Cole-Carpenter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
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 IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      Cole-Carpenter syndrome 2
        Cole-Carpenter Syndrome 1 1
        Cole-Carpenter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      Skin and Connective Tissue Diseases 23021
        connective tissue disease 16001
          bone disease 12638
            bone development disease 3416
              dysostosis 926
                synostosis 582
                  craniosynostosis 493
                    Cole-Carpenter syndrome 2
                      Cole-Carpenter Syndrome 1 1
                      Cole-Carpenter Syndrome 2 1
paths to the root