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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:Ehlers-Danlos syndrome cardiac valvular type
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Accession:DOID:0080730 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Cardiac valvular form of Ehlers-Danlos syndrome;   Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome;   Ehlers-Danlos Syndrome, Arthrochalasis Type;   Ehlers-Danlos syndrome, cardiac valvular form;   Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive
 primary_id: MESH:C536200
 alt_id: OMIM:225320
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:2404284 PMID:8347685 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type		 OMIM
CTD
ClinVar		 PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Ehlers-Danlos syndrome 223
        Ehlers-Danlos syndrome cardiac valvular type 3
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          blood coagulation disease 831
            hemorrhagic disease 800
              vascular hemostatic disease 428
                Ehlers-Danlos syndrome 223
                  Ehlers-Danlos syndrome cardiac valvular type 3
paths to the root