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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;   PXE, MODIFIER OF SEVERITY OF
 related_synonym: 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.


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pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association
ISO
IMP
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264800
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
CTD
OMIM
PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 More... RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
JBrowse link
G Eln elastin ISO RGD PMID:7524808 PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:16541094 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Sod2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
CTD
PMID:16571645 PMID:25741868 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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 ClinVar Annotator: match by OMIM:610842
DNA:mutations: :
ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
OMIM
ClinVar
PMID:9615107 PMID:17110937 PMID:18800149 PMID:25741868 PMID:29175035 More... RGD:11040509 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          pseudoxanthoma elasticum 21
            Pseudoxanthoma Elasticum, Heterozygous 0
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          blood coagulation disease 648
            hemorrhagic disease 638
              vascular hemostatic disease 318
                pseudoxanthoma elasticum 21
                  Pseudoxanthoma Elasticum, Heterozygous 0
                  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
paths to the root