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
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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

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Path 1
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          Pfeiffer syndrome 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      Skin and Connective Tissue Diseases 3929
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    acrocephalosyndactylia 7
                      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.