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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: EDSCV;   Ehlers-Danlos Syndrome, Arthrochalasis Type;   Ehlers-Danlos syndrome, cardiac valvular form;   Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive;   cardiac valvular form of Ehlers-Danlos syndrome;   cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome
 xref: MESH:C536200;   MIM:225320;   MONDO:0009159


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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 Col1a1 collagen type I alpha 1 chain ISO 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, arthrochalasis type | 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 PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		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, cardiac valvular type 		OMIM
CTD
ClinVar		 PMID:3049731 PMID:3383844 PMID:6191221 PMID:7695699 PMID:7860070 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:25741868 PMID:28492532 PMID:31903434 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Ehlers-Danlos syndrome 259
        Ehlers-Danlos syndrome cardiac valvular type 3
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Skin Abnormalities 1322
                Ehlers-Danlos syndrome 259
                  Ehlers-Danlos syndrome cardiac valvular type 3
paths to the root