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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 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
OMIM
ClinVar
CTD
PMID:1879832, PMID:6641002, PMID:9302279, PMID:10441342, PMID:10441570, PMID:10678662, PMID:12414818, PMID:12794692, PMID:14608643, PMID:15739154, PMID:15811011, PMID:16740916, PMID:18000979, PMID:18154020, PMID:18241058, PMID:18435847, PMID:19829694, PMID:20583172, PMID:20672375, PMID:24736735, PMID:25606469, PMID:25741868, PMID:26508445, PMID:27231705, PMID:28492532, PMID:22903559, PMID:24736735, PMID:10441342, PMID:15739154 RGD:12738141, RGD:12738205, RGD:12738208, RGD:12738222 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Greig cephalopolysyndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    acrocephalosyndactylia 8
                      Greig cephalopolysyndactyly syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.