ONTOLOGY REPORT - ANNOTATIONS


Term:pseudoxanthoma elasticum
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Accession:DOID:2738 term browser browse the term
Definition:An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Synonyms:exact_synonym: Groenblad-Strandberg Syndrome;   Gronblad Strandberg Syndrome;   Incomplete Pseudoxanthoma Elasticum;   Incomplete Pseudoxanthoma Elasticums;   PXE;   Pseudoxanthoma Elasticum, Autosomal Dominant;   Pseudoxanthoma Elasticum, Forme Fruste
 narrow_synonym: GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF;   PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS;   PXE, MODIFIER OF SEVERITY OF
 related_synonym: Pseudoxanthoma Elasticum, Modifier Of Severity Of
 primary_id: MESH:D011561;   RDO:0006430
 alt_id: OMIM:177850;   OMIM:264800
 xref: GARD:9643;   ORDO:758
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pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc1 ATP binding cassette subfamily C member 1 JBrowse link 10 549,537 672,235 RGD:8554872
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:737772
RGD:8554872
RGD:13792593
RGD:11554173
RGD:11038786
RGD:11038785
RGD:11038782
RGD:11038781
RGD:11038779
RGD:11038778
RGD:11038737
RGD:7240710
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li RGD:13792593
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8547520
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585748
RGD:9585763
G Fopnl FGFR1OP N-terminal like JBrowse link 10 730,215 751,061 RGD:8554872
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:8547520
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657064
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8547520
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483615
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:7240710
RGD:8554872
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:7240710
RGD:11554173
RGD:8554872
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:7240710
RGD:8554872
RGD:11040509

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          pseudoxanthoma elasticum 20
            Pseudoxanthoma Elasticum, Heterozygous 0
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          blood coagulation disease 390
            hemorrhagic disease 376
              vascular hemostatic disease 182
                pseudoxanthoma elasticum 20
                  Pseudoxanthoma Elasticum, Heterozygous 0
                  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.