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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
 xref: GARD:6550;   MESH:C537300;   MIM:175700;   MONDO:0008287;   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 Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:51,946,701...52,037,257 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
OMIM:175700
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
MouseDO
ClinVar
RGD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738141, RGD:12738205, RGD:12738208, RGD:12738222 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Inhba inhibin subunit beta A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,373,624...47,376,199
Ensembl chr17:52,069,154...52,071,720 		JBrowse link
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:51,787,682...51,840,738
Ensembl chr17:51,787,699...51,840,733 		JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:52,072,012...52,929,852
Ensembl chr17:52,072,052...52,930,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Greig cephalopolysyndactyly syndrome 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  craniosynostosis 340
                    acrocephalosyndactylia 89
                      Greig cephalopolysyndactyly syndrome 6
paths to the root