loading...| Preferred Name | Epidermolysis Bullosa Simplex | |
| Synonyms |
Epidermolysis Bullosa Herpetiformis Dowling Meara Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Simplex, Cockayne Touraine Type Weber-Cockayne Syndrome Epidermolysis Bullosa Simplex Kobner Generalized EBS EBS-DM Epidermolysis Bullosa Simplex, Koebner Type Epidermolysis Bullosa Simplex, Weber-Cockayne Type Epidermolysis Bullosa Herpetiformis, Dowling Meara Acral Form EBSs Epidermolysis Bullosa Herpetiformis, Dowling Meara Type Epidermolysis Bullosa Simplex, Cockayne-Touraine Type Epidermolysis Bullosa Simplex, Localized Acral Form EBS Epidermolysis Bullosa Simplex, Weber Cockayne Type Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Simplices EBS, Acral Form Weber Cockayne Type Epidermolysis Bullosa Simplex Weber Cockayne Syndrome Epidermolysis Bullosa Simplex, Dowling Meara Type Generalized EBSs Weber-Cockayne Type Epidermolysis Bullosa Simplex EBS, Generalized Bullosa Simplices, Epidermolysis Epidermolysis Bullosa of Hands and Feet Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBSs, Generalized Epidermolysis Bullosa Herpetiformis Dowling-Meara EBSs, Acral Form |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016110 |
|
| altLabel |
Epidermolysis Bullosa Herpetiformis Dowling Meara Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Simplex, Cockayne Touraine Type Weber-Cockayne Syndrome Epidermolysis Bullosa Simplex Kobner Generalized EBS EBS-DM Epidermolysis Bullosa Simplex, Koebner Type Epidermolysis Bullosa Simplex, Weber-Cockayne Type Epidermolysis Bullosa Herpetiformis, Dowling Meara Acral Form EBSs Epidermolysis Bullosa Herpetiformis, Dowling Meara Type Epidermolysis Bullosa Simplex, Cockayne-Touraine Type Epidermolysis Bullosa Simplex, Localized Acral Form EBS Epidermolysis Bullosa Simplex, Weber Cockayne Type Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Simplices EBS, Acral Form Weber Cockayne Type Epidermolysis Bullosa Simplex Weber Cockayne Syndrome Epidermolysis Bullosa Simplex, Dowling Meara Type Generalized EBSs Weber-Cockayne Type Epidermolysis Bullosa Simplex EBS, Generalized Bullosa Simplices, Epidermolysis Epidermolysis Bullosa of Hands and Feet Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBSs, Generalized Epidermolysis Bullosa Herpetiformis Dowling-Meara EBSs, Acral Form |
|
| 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 |
|
| cui |
C0079298 C0079299 C0079295 C0080333 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
19910101 |
|
| FX |
D053555 D053547 |
|
| HN |
1991 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1991 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535962 http://purl.bioontology.org/ontology/MESH/C563408 http://purl.bioontology.org/ontology/MESH/C535492 http://purl.bioontology.org/ontology/MESH/C535955 http://purl.bioontology.org/ontology/MESH/C535959 http://purl.bioontology.org/ontology/MESH/C563730 |
|
| MDA |
19900212 |
|
| MMR |
20150618 |
|
| MN |
C17.800.865.410.180 C16.320.850.275.180 C17.800.804.493.180 C16.131.831.493.180 C17.800.827.275.180 |
|
| notation |
D016110 |
|
| prefLabel |
Epidermolysis Bullosa Simplex |
|
| TERMUI |
T047867 T047864 T047862 T817130 T047863 T047866 T817131 T047861 T751638 T782920 T781870 T811958 T782919 T781869 T047865 T751637 T811955 T817132 |
|
| TH |
OMIM (2013) NLM (1993) NLM (1991) NLM (2012) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |
|
| subClassOf |