ONTOLOGY REPORT - ANNOTATIONS


Term:Sensenbrenner syndrome
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Accession:DOID:0050577 term browser browse the term
Definition:An autosomal recessive disease that is characterized by microcephaly, bradydactyly, hypodontia, renal failure, cardiac defects, liver fibrosis and other gross physical abnormalities and has_material_basis_in mutations in genes that control intraflagellar transport, IFT122, IFT43 or IFT121. (DO)
Synonyms:exact_synonym: Levin syndrome;   cranioectodermal dysplasia
 primary_id: MESH:C562966
 alt_id: RDO:0012453
 xref: OMIM:PS218330
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Sensenbrenner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:11554173
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:11554173
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase JBrowse link 4 147,744,673 147,756,462 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
RGD:11554173
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11552606

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      ectodermal dysplasia 142
        Sensenbrenner syndrome 8
          Cranioectodermal Dysplasia 1 1
          Cranioectodermal Dysplasia 2 2
          Cranioectodermal Dysplasia 3 1
          Cranioectodermal Dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Sensenbrenner syndrome 8
                      Cranioectodermal Dysplasia 1 1
                      Cranioectodermal Dysplasia 2 2
                      Cranioectodermal Dysplasia 3 1
                      Cranioectodermal Dysplasia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.