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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 arthrochalasia type 2
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Accession:DOID:0080728 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: EDS VIIB;   EDS7B;   EDSARTH2;   Ehlers-Danlos syndrome type VIIB, autosomal dominant
 primary_id: OMIM:617821
 alt_id: DOID:9004487;   MESH:C565061
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome arthrochalasia type 2 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, ARTHROCHALASIA TYPE, 2 ClinVar PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2
ClinVar
OMIM
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15172002 PMID:16705691 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21884818 PMID:22589248 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:28492532 PMID:31319225 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Ehlers-Danlos syndrome 116
        Ehlers-Danlos Syndrome Type 7 15
          Ehlers-Danlos syndrome arthrochalasia type 2 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          blood coagulation disease 650
            hemorrhagic disease 640
              vascular hemostatic disease 317
                Ehlers-Danlos syndrome 116
                  Ehlers-Danlos Syndrome Type 7 15
                    Ehlers-Danlos syndrome arthrochalasia type 2 2
paths to the root