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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: NCI:C130985;   OMIM:PS112240;   ORDO:2050
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
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 ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 PMID:25741868 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
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 ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Cole-Carpenter syndrome 2
        Cole-Carpenter Syndrome 1 1
        Cole-Carpenter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Skin and Connective Tissue Diseases 5810
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              dysostosis 393
                synostosis 241
                  craniosynostosis 186
                    Cole-Carpenter syndrome 2
                      Cole-Carpenter Syndrome 1 1
                      Cole-Carpenter Syndrome 2 1
paths to the root