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- NCIT_C67383 IAO_0000115 "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." @default.
- NCIT_C67383 NCIT_NHC0 "C67383" @default.
- NCIT_C67383 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C67383 NCIT_P107 "Epidermolysis Bullosa" @default.
- NCIT_C67383 NCIT_P108 "Epidermolysis Bullosa" @default.
- NCIT_C67383 NCIT_P207 "C0014527" @default.
- NCIT_C67383 NCIT_P322 "CTRP" @default.
- NCIT_C67383 NCIT_P322 "Cellosaurus" @default.
- NCIT_C67383 NCIT_P322 "NICHD" @default.
- NCIT_C67383 NCIT_P325 "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." @default.
- NCIT_C67383 NCIT_P366 "Epidermolysis_Bullosa" @default.
- NCIT_C67383 NCIT_R100 NCIT_C12219 @default.
- NCIT_C67383 NCIT_R100 NCIT_C12907 @default.
- NCIT_C67383 NCIT_R100 NCIT_C12919 @default.
- NCIT_C67383 NCIT_R101 NCIT_C12219 @default.
- NCIT_C67383 NCIT_R101 NCIT_C12470 @default.
- NCIT_C67383 NCIT_R101 NCIT_C13018 @default.
- NCIT_C67383 NCIT_R108 NCIT_C3367 @default.
- NCIT_C67383 NCIT_R108 NCIT_C36278 @default.
- NCIT_C67383 NCIT_R108 NCIT_C36281 @default.
- NCIT_C67383 NCIT_R108 NCIT_C39570 @default.
- NCIT_C67383 NCIT_R108 NCIT_C7057 @default.
- NCIT_C67383 normalizedInformationContent "87.123597049860606" @default.
- NCIT_C67383 referenceCount "7" @default.
- NCIT_C67383 hasExactSynonym "Epidermolysis Bullosa" @default.
- NCIT_C67383 hasExactSynonym "epidermolysis bullosa" @default.
- NCIT_C67383 inSubset NCIT_C116977 @default.
- NCIT_C67383 inSubset NCIT_C118168 @default.
- NCIT_C67383 inSubset NCIT_C165258 @default.
- NCIT_C67383 inSubset NCIT_C192842 @default.
- NCIT_C67383 inSubset NCIT_C90259 @default.
- NCIT_C67383 inSubset NCIT_C99147 @default.
- NCIT_C67383 type Class @default.
- NCIT_C67383 isDefinedBy ncit.owl @default.
- NCIT_C67383 label "Epidermolysis Bullosa" @default.
- NCIT_C67383 subClassOf NCIT_C156032 @default.
- NCIT_C67383 subClassOf NCIT_C27551 @default.
- NCIT_C67383 subClassOf NCIT_C27555 @default.
- NCIT_C67383 subClassOf NCIT_C2849 @default.
- NCIT_C67383 subClassOf NCIT_C2991 @default.
- NCIT_C67383 subClassOf NCIT_C3371 @default.
- NCIT_C67383 subClassOf NCIT_C36287 @default.
- NCIT_C67383 subClassOf NCIT_C4873 @default.
- NCIT_C67383 subClassOf NCIT_C53529 @default.
- NCIT_C67383 subClassOf NCIT_C53531 @default.
- NCIT_C67383 subClassOf NCIT_C53543 @default.
- NCIT_C67383 subClassOf NCIT_C53547 @default.
- NCIT_C67383 subClassOf NCIT_C67383 @default.
- NCIT_C67383 subClassOf NCIT_C7057 @default.
- NCIT_C67383 subClassOf NCIT_C97151 @default.
- NCIT_C67383 subClassOf NCIT_C97174 @default.