loading...| Preferred Name | Epidermolysis Bullosa | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C67383 |
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| ALT_DEFINITION |
A group of chronic skin disorders in which fluid-filled blisters form on the skin and mucosa (the moist, inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually starts at birth. Patients with epidermolysis bullosa may be at increased risk of squamous cell cancer of the skin. |
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| code |
C67383 |
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| Contributing_Source |
Cellosaurus CTRP NICHD |
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| definition |
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. |
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| Display_Name |
Epidermolysis Bullosa |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C165258 |
|
| label |
Epidermolysis Bullosa |
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| Legacy Concept Name |
Epidermolysis_Bullosa |
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| Preferred_Name |
Epidermolysis Bullosa |
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| prefixIRI |
NCIT:C67383 |
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| prefLabel |
Epidermolysis Bullosa |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0014527 |
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C156032 |