Terminology Service < Semantic Lookup Platform

Ehlers-Danlos Syndrome

http://purl.bioontology.org/ontology/MESH/D004535

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

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Instance info

Synonyms

Ehlers-Danlos-Syndrom (DE), Danlos Disease, Ehlers, Cutis Elastica, Ehlers-Danlos Syndrome, Ecchymotic Type, Ehlers-Danlos Syndrome, Sack-Barabas Type, Ehlers Danlos Disease, Ehlers Danlos Syndrome, Sack Barabas Type, Ehlers-Danlos Disease, Ehlers Danlos Syndrome, Ecchymotic Type, Ehlers Danlos Syndrome, Sack-Barabas Type, Ehlers Danlos Syndrome, Type IV, EDS IV, Cutis hyperelastica (DE), Ehlers Danlos Syndrome, Disease, Ehlers Danlos, Ehlers-Danlos Syndrome, Type IV, Ehlers-Danlos Syndrome, Arterial Type, Fibrodysplasia elastica generalisata (DE), Disease, Ehlers-Danlos, Ehlers Danlos Syndrome, Arterial Type, Syndrome, Ehlers-Danlos, Ehlers-Danlos-Syndrom, vaskulärer Typ (DE), Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant, Ehlers-Danlos Syndrome, Vascular Type, Ehlers Danlos Syndrome, Vascular Type, Ehlers-Danlos-Syndrom, Typ IV (DE), Ehlers Danlos Syndrome Type 4, Autosomal Dominant

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

19660101

D012155

MDA

19990101

MMR

20150622

C15.378.463.515.240,C17.800.827.260,C14.907.454.240,C16.320.850.260,C17.300.200.310,C17.800.804.428,C16.131.831.428

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D012155,http://purl.bioontology.org/ontology/MESH/D003483

SIB

http://purl.bioontology.org/ontology/MESH/D011694,http://purl.bioontology.org/ontology/MESH/D011695,http://purl.bioontology.org/ontology/MESH/D016108,http://purl.bioontology.org/ontology/MESH/D019339,http://purl.bioontology.org/ontology/MESH/D053529,http://purl.bioontology.org/ontology/MESH/D016506,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D017441,http://purl.bioontology.org/ontology/MESH/D053560,http://purl.bioontology.org/ontology/MESH/D016111,http://purl.bioontology.org/ontology/MESH/D057088,http://purl.bioontology.org/ontology/MESH/D007627,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D012593,http://purl.bioontology.org/ontology/MESH/D012790,http://purl.bioontology.org/ontology/MESH/D016112,http://purl.bioontology.org/ontology/MESH/D016113,http://purl.bioontology.org/ontology/MESH/D013683,http://purl.bioontology.org/ontology/MESH/D017092,http://purl.bioontology.org/ontology/MESH/D004820,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D055653,http://purl.bioontology.org/ontology/MESH/D056266,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D017094,http://purl.bioontology.org/ontology/MESH/D009394,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D008065,http://purl.bioontology.org/ontology/MESH/D017499,http://purl.bioontology.org/ontology/MESH/D007057,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D008258,http://purl.bioontology.org/ontology/MESH/D007645,http://purl.bioontology.org/ontology/MESH/D007644,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D003449,http://purl.bioontology.org/ontology/MESH/D006392,http://purl.bioontology.org/ontology/MESH/D009101,http://purl.bioontology.org/ontology/MESH/D011561,http://purl.bioontology.org/ontology/MESH/D003483,http://purl.bioontology.org/ontology/MESH/D012614,http://purl.bioontology.org/ontology/MESH/D003876,http://purl.bioontology.org/ontology/MESH/D000169,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D057770

TERMUI

T013886,T013884,T812210,T680130,T680131,T013885,T834230,T834228,T812209,T834227,T824492,T834229,T812206,T824493,T841321

NLM (2008),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (1966)

cui

C0013720,C0268338

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C562626,http://purl.bioontology.org/ontology/MESH/C562625,http://purl.bioontology.org/ontology/MESH/C567527,http://purl.bioontology.org/ontology/MESH/C565600,http://purl.bioontology.org/ontology/MESH/C562424,http://purl.bioontology.org/ontology/MESH/C565563,http://purl.bioontology.org/ontology/MESH/C565178,http://purl.bioontology.org/ontology/MESH/C536193,http://purl.bioontology.org/ontology/MESH/C536195,http://purl.bioontology.org/ontology/MESH/C536194,http://purl.bioontology.org/ontology/MESH/C567340,http://purl.bioontology.org/ontology/MESH/C565061,http://purl.bioontology.org/ontology/MESH/C536201,http://purl.bioontology.org/ontology/MESH/C000600608,http://purl.bioontology.org/ontology/MESH/C536200,http://purl.bioontology.org/ontology/MESH/C536197,http://purl.bioontology.org/ontology/MESH/C536196,http://purl.bioontology.org/ontology/MESH/C536199,http://purl.bioontology.org/ontology/MESH/C537860,http://purl.bioontology.org/ontology/MESH/C538112,http://purl.bioontology.org/ontology/MESH/C536198

tui

T047

Instance relations

Types

Class