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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:Greig cephalopolysyndactyly syndrome
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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
 narrow_synonym: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
 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.


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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 CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape		 OMIM
CTD
ClinVar
RGD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 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 18030
    syndrome 9456
      Greig cephalopolysyndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  craniosynostosis 219
                    acrocephalosyndactylia 8
                      Greig cephalopolysyndactyly syndrome 1
paths to the root