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DOID:13359 - Ehlers-Danlos syndrome
Disease Ontology 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.
Synonyms: Cutis hyperelastica, elastic skin,
Xenbase Genes
:
tnxb,
adamts2,
col1a2,
prdm5,
plod1,
b4galt7,
b3galt6,
c1r,
c1s,
slc39a13,
dse,
col3a1,
col5a1,
col5a2,
col1a1,
| MONDO:0020066 - Ehlers-Danlos syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
collagen disease (is_a)