ONTOLOGY REPORT - ANNOTATIONS


Term:Loeys-Dietz syndrome 4
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Accession:DOID:0070233 term browser browse the term
Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS;   LDS4
 primary_id: OMIM:614816
 alt_id: DOID:9003892;   RDO:9000671
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Loeys-Dietz syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Marc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Marc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:7240710
RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872

Term paths to the root
Path 1
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  disease 14920
    syndrome 4714
      Marfan syndrome 53
        Loeys-Dietz syndrome 33
          Loeys-Dietz syndrome 4 21
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Skin and Connective Tissue Diseases 3927
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Loeys-Dietz syndrome 33
                      Loeys-Dietz syndrome 4 21
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.