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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


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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, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More... NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 OMIM
ClinVar		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Ehlers-Danlos syndrome 252
        Ehlers-Danlos Syndrome Type 7 65
          Ehlers-Danlos syndrome arthrochalasia type 2 2
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Genetic Skin Diseases 1818
                Ehlers-Danlos syndrome 252
                  Ehlers-Danlos Syndrome Type 7 65
                    Ehlers-Danlos syndrome arthrochalasia type 2 2
paths to the root