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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 musculocontractural type 2
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Accession:DOID:0080737 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: EDSMC2
 primary_id: OMIM:615539
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by OMIM:615539
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
OMIM
ClinVar
PMID:23704329 PMID:25703627 PMID:28492532 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome musculocontractural type 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Musculoskeletal Abnormalities 1677
            Congenital Limb Deformities 454
              Lower Extremity Deformities, Congenital 77
                Congenital Foot Deformities 69
                  Talipes 40
                    clubfoot 33
                      Ehlers-Danlos syndrome musculocontractural type 2 1
paths to the root