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
Accession: DOID:2738
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: MIM:177850 ; MIM:264800
xref: GARD:9643 ; NCI:C85036 ; ORDO:758
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc1
ATP binding cassette subfamily C member 1
ISO
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar
PMID:11439001 PMID:16541094
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc2
ATP binding cassette subfamily C member 2
ISO
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar
PMID:9878557 PMID:15870973 PMID:25741868 PMID:28492532 PMID:29499989
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc6
ATP binding cassette subfamily C member 6
susceptibility no_association
ISO ISS IMP
ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | 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 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11692167 PMID:11702217 PMID:11880368 PMID:12069597 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:12928920 PMID:14631379 PMID:14667841 PMID:15086542 PMID:15098239 PMID:15184964 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15727254 PMID:15752294 PMID:15894595 PMID:16086317 PMID:16086762 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16543900 PMID:16571645 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17045963 PMID:17576681 PMID:17617515 PMID:17724214 PMID:17823974 PMID:18049453 PMID:18157818 PMID:18253096 PMID:18347285 PMID:18513494 PMID:18800149 PMID:19284998 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20034067 PMID:20075945 PMID:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21935449 PMID:22209248 PMID:23415960 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:24727260 PMID:25062064 PMID:25264593 PMID:25265166 PMID:25615550 PMID:25741868 PMID:25758222 PMID:26029710 PMID:26084751 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29709427 PMID:29722917 PMID:29800625 PMID:30154241 PMID:30229859 PMID:30328268 PMID:30537162 PMID:30805891 PMID:31164056 PMID:31240106 PMID:31456290 PMID:32037395 PMID:32372237 PMID:32818659 PMID:32860008 PMID:32873932 PMID:33812167 PMID:33946315 PMID:34205333 PMID:34440381 PMID:34597610 PMID:34906475 PMID:35261845 PMID:36317459 PMID:10835643 PMID:28111129 PMID:16835894 PMID:16835894 PMID:11692167 PMID:12714611 PMID:17617515 PMID:16392638 PMID:15459974 PMID:16135817 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
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Abcc6em2Qlju
ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li
IMP
RGD
PMID:28111129
RGD:13792593
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Abcc6em3Qlju
ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li
IMP
RGD
PMID:28111129
RGD:13792593
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Abcc6em4Qlju
ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li
IMP
RGD
PMID:28111129
RGD:13792593
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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
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Cep20
centrosomal protein 20
ISO
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar
PMID:11439001 PMID:16541094
NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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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
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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
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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
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar
PMID:11439001 PMID:16541094
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Gronblad Strandberg syndrome
ClinVar
PMID:16541094
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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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
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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
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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 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Xylt2
xylosyltransferase 2
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 chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS
ClinVar
PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11702217 PMID:11880368 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:14631379 PMID:15086542 PMID:15098239 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15752294 PMID:15894595 PMID:16086317 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17576681 PMID:17617515 PMID:17724214 PMID:18157818 PMID:18253096 PMID:18347285 PMID:18513494 PMID:18800149 PMID:19284998 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20075945 PMID:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:25062064 PMID:25265166 PMID:25615550 PMID:25741868 PMID:26029710 PMID:26084751 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29722917 PMID:29800625 PMID:30154241 PMID:30229859 PMID:30328268 PMID:30537162 PMID:31164056 PMID:32860008 PMID:32873932 PMID:33946315 PMID:34205333 PMID:34597610 PMID:34906475 PMID:36317459 More...
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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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 PMID:25741868 PMID:28125048 PMID:28492532 PMID:29175035 PMID:32935436 PMID:33000479 PMID:33507293 PMID:34816548 PMID:34906475 PMID:17110937 More...
RGD:11040509
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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