Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary arterial and articular multiple calcification syndrome
go back to main search page
Accession:DOID:0111582 term browser browse the term
Definition:A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3. (DO)
Synonyms:exact_synonym: ACDC;   CALJA;   arterial calcification and distal joint calcification;   arterial calcification due to CD73 deficiency;   arterial calcification due to deficiency of CD73;   arterial calcification due to deficiency of CD73:ACDC;   calcification of joints and arteries
 primary_id: MESH:C565891
 alt_id: OMIM:211800
 xref: GARD:10762;   ORDO:289601
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nt5e 5' nucleotidase, ecto JBrowse link 8 95,969,002 96,012,733 RGD:7240710
RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205494
Aortic Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:7244260
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:8549476
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:11057945
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:13204716
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11038653
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11038653
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:2315841
Coronary Artery Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205482

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      hereditary arterial and articular multiple calcification syndrome 11
        Aortic Calcification 9
        Coronary Artery Calcification 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal recessive disease 2159
                hereditary arterial and articular multiple calcification syndrome 11
                  Aortic Calcification 9
                  Coronary Artery Calcification 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.