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Epidermolysis Bullosa Simplex

http://purl.bioontology.org/ontology/MESH/D016110

A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.

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Synonyms

Epidermolysis bullosa simplex Koebner (DE), Epidermolysis Bullosa Simplex Kobner, Epidermolysis Bullosa Simplex, Cockayne Touraine Type, Generalized EBS, EBSs, Acral Form, Weber Cockayne Type Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Herpetiformis, Dowling Meara, Epidermolysis Bullosa Simplices, Epidermolysis bullosa herpetiformis Dowling-Meara (DE), Epidermolysis Bullosa Herpetiformis, Dowling-Meara, EBS, Generalized, Epidermolysis Bullosa Herpetiformis, Dowling Meara Type, Acral Form EBSs, Weber-Cockayne Type Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Simplex, Weber Cockayne Type, Epidermolysis Bullosa Simplex, Koebner Type, Epidermolysis Bullosa Simplex, Cockayne-Touraine Type, Epidermolysis Bullosa Simplex, Dowling Meara Type, EBSs, Generalized, Epidermolysis Bullosa Simplex, Generalized, Epidermolysis Bullosa Simplex, Weber-Cockayne Type, Generalized EBSs, Weber Cockayne Syndrome, EBS-DM, Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type, EBS, Acral Form, Epidermolysis Bullosa of Hands and Feet, Epidermolysis Bullosa Simplex, Localized, Epidermolysis Bullosa Herpetiformis Dowling Meara, Weber-Cockayne Syndrome, Epidermolysis Bullosa Simplex, Dowling-Meara Type, Weber-Cockayne-Syndrom (DE), Epidermolysis bullosa simplex (DE), Epidermolysis Bullosa Herpetiformis Dowling-Meara, Bullosa Simplices, Epidermolysis, Acral Form EBS

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

19910101

D053555,D053547

1991

MDA

19900212

MMR

20150618

C16.320.850.275.180,C17.800.804.493.180,C17.800.865.410.180,C17.800.827.275.180,C16.131.831.493.180

1991

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,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/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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/D053547,http://purl.bioontology.org/ontology/MESH/D053555

SIB

http://purl.bioontology.org/ontology/MESH/D016107,http://purl.bioontology.org/ontology/MESH/D016108,http://purl.bioontology.org/ontology/MESH/D016109

TERMUI

T817132,T817131,T817130,T781870,T782920,T781869,T047867,T811955,T047865,T047866,T782919,T751638,T047863,T811958,T751637,T047864,T047861,T047862

NLM (1991),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2010),NLM (2012)

cui

C0080333,C0079298,C0079299,C0079295

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C535955,http://purl.bioontology.org/ontology/MESH/C563408,http://purl.bioontology.org/ontology/MESH/C535962,http://purl.bioontology.org/ontology/MESH/C567408,http://purl.bioontology.org/ontology/MESH/C564368,http://purl.bioontology.org/ontology/MESH/C563730,http://purl.bioontology.org/ontology/MESH/C535959,http://purl.bioontology.org/ontology/MESH/C535492

tui

T019,T047

Instance relations

Types

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