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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:arterial calcification of infancy
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Accession:DOID:0050644 term browser browse the term
Definition:A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO)
Synonyms:exact_synonym: GACI;   IIAC;   generalized arterial calcification in infancy;   generalized arterial calcification, of infancy;   idiopathic infantile arterial calcification;   infantile arteriosclerosis;   occlusive infantile arteriopathy
 narrow_synonym: ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY
 primary_id: MESH:C537440
 xref: GARD:8380;   MIM:PS208000;   ORDO:51608


show annotations for term's descendants           Sort by:
arterial calcification of infancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS		 DNA:missense mutations:cds:p.G342V, p.Y371F (human)
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
OMIM:208000 | OMIM:614473
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041 		JBrowse link
G Zfp292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr 5:49,384,177...49,468,177
Ensembl chr 5:49,387,893...49,468,265 		JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      cardiovascular system disease 5544
        vascular disease 4024
          artery disease 2858
            arterial calcification of infancy 5
              Generalized Arterial Calcification of Infancy, 1 4
              Generalized Arterial Calcification of Infancy, 2 1
Path 2
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2538
          mineral metabolism disease 959
            calcium metabolism disease 630
              calcinosis 553
                Vascular Calcification 25
                  arterial calcification of infancy 5
                    Generalized Arterial Calcification of Infancy, 1 4
                    Generalized Arterial Calcification of Infancy, 2 1
paths to the root