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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:pseudoxanthoma elasticum
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Accession:DOID:2738 term browser browse the term
Definition:A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (DO)
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: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS
 broad_synonym: XYLT2-RELATED CONDITION
 related_synonym: PXE, MODIFIER OF SEVERITY OF;   pseudoxanthoma elasticum, modifier of severity of
 primary_id: MESH:D011561
 alt_id: OMIM:177850;   OMIM:264800
 xref: GARD:9643;   NCI:C85036;   ORDO:758
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP-binding cassette, sub-family C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:25741868 PMID:28492532 PMID:29499989 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Abcc6 ATP-binding cassette, sub-family C member 6 susceptibility
no_association		 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
OMIM:177850 | OMIM:264800
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269 		JBrowse link
G Eln elastin ISO RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of		 OMIM
CTD
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 7:116,980,214...117,266,853
Ensembl chr 7:116,980,214...117,272,803 		JBrowse link
G Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
Pseudoxanthoma Elasticum, Heterozygous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO DNA:mutations: :
ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9615107 PMID:17110937 PMID:17576681 PMID:18800149 More... RGD:11040509 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        connective tissue disease 5393
          pseudoxanthoma elasticum 15
            Pseudoxanthoma Elasticum, Heterozygous 1
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          blood coagulation disease 945
            hemorrhagic disease 899
              vascular hemostatic disease 481
                pseudoxanthoma elasticum 15
                  Pseudoxanthoma Elasticum, Heterozygous 1
                  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
paths to the root