FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Pfeiffer syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          Pfeiffer syndrome 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    acrocephalosyndactylia 7
                      Pfeiffer syndrome 2
paths to the root