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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 2
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Accession:DOID:9002469 term browser browse the term
Synonyms:exact_synonym: CRPT2
 primary_id: OMIM:614976
 alt_id: RDO:9000215
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Carpenter Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome 2
OMIM
ClinVar
PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Carpenter syndrome 3
        Carpenter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Skin and Connective Tissue Diseases 4954
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    acrocephalosyndactylia 8
                      Carpenter syndrome 3
                        Carpenter Syndrome 2 1
paths to the root