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Disease Ontology Browser
Ehlers-Danlos syndrome (DOID:13359)
Alliance: disease page
Synonyms: Cutis hyperelastica; elastic skin
Alt IDs: DOID:14696, ICD10CM:Q79.6, ICD9CM:756.83, MESH:D004535, NCI:C34568, OMIM:PS130000, UMLS_CUI:C0013720
Definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

Disease References using Mouse Models (13)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory