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ONTOLOGY REPORT - ANNOTATIONS


Term:Pfeiffer syndrome
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Accession:DOID:14705 term browser browse the term
Definition:An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: ACS V;   ACS5;   Pfeiffer type acrocephalosyndactyly;   Type V acrocephalosyndactylies;   acrocephalosyndactylia type V;   acrocephalosyndactyly, type 5;   acrocephalosyndactyly, type V
 narrow_synonym: NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA
 primary_id: MESH:C538582
 alt_id: OMIM:101600;   RDO:0004514
 xref: GARD:7380;   NCI:C99100;   ORDO:710
For additional species annotation, visit the Alliance of Genome Resources.


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Pfeiffer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      chromosomal duplication syndrome 721
        syndactyly 43
          acrocephalosyndactylia 8
            Pfeiffer syndrome 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Skin and Connective Tissue Diseases 5356
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              dysostosis 316
                synostosis 210
                  craniosynostosis 171
                    acrocephalosyndactylia 8
                      Pfeiffer syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.