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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 classic type 2
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Accession:DOID:0080726 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)
Synonyms:exact_synonym: COL5A2-RELATED CONDITION;   EDS II;   EDS2;   EDSCL2;   Ehlers-Danlos Syndrome Type 2;   Ehlers-Danlos Syndrome, Type 2 Atypical;   Ehlers-Danlos syndrome type II;   Ehlers-Danlos syndrome, MITIS type;   Ehlers-Danlos syndrome, mild classic type
 primary_id: MESH:C536195
 alt_id: OMIM:130010
 xref: NCI:C125697

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Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II ClinVar PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 More... NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 OMIM
ClinVar		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Ehlers-Danlos syndrome 237
        Ehlers-Danlos syndrome classic type 2 3
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Skin Abnormalities 1197
                Ehlers-Danlos syndrome 237
                  Ehlers-Danlos syndrome classic type 2 3
paths to the root