Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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:Greig cephalopolysyndactyly syndrome
go back to main search page
Accession:DOID:14761 term browser browse the term
Definition:An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)
Synonyms:exact_synonym: GCPS;   Greig cephalopolysyndactyly (GCPS) syndrome;   Greig syndrome;   cephalopolysyndactyly syndrome;   polysyndactyly with peculiar skull shape;   polysyndactyly with peculiars skull shape
 primary_id: MESH:C537300
 alt_id: OMIM:175700
 xref: GARD:6550;   NCI:C35255;   ORDO:380
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by OMIM:175700
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
PMID:1879832 PMID:6641002 PMID:9302279 PMID:10441342 PMID:10441570 More... RGD:12738141, RGD:12738205, RGD:12738208, RGD:12738222 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      Greig cephalopolysyndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      musculoskeletal system disease 6430
        connective tissue disease 4432
          bone disease 3114
            bone development disease 1421
              dysostosis 394
                synostosis 241
                  craniosynostosis 186
                    acrocephalosyndactylia 8
                      Greig cephalopolysyndactyly syndrome 1
paths to the root