Ehlers-Danlos syndrome Disease Ontology Browser

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)

Allelic Composition	Genetic Background	Reference	Phenotypes
Col1a1M1Jrt/Col1a1+	involves: C3H/HeJ * C57BL/6J * FVB/NJ	J:216423	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Dcntm1Ioz/Dcntm1Ioz	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	J:39212	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Plod1tm1Soin/Plod1tm1Soin	involves: 129S6/SvEvTac * C57BL/6	J:120891	View

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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