loading...| Preferred Name | Epidermolytic Ichthyosis | |
| Synonyms |
Bullous Congenital Ichthyosiform Erythroderma Epidermolytic Hyperkeratosis Epidermolytic Ichthyosis BCIE |
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| Definitions |
An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62569 |
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| code |
C62569 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility. |
|
| FULL_SYN |
Bullous Congenital Ichthyosiform Erythroderma Epidermolytic Hyperkeratosis Epidermolytic Ichthyosis BCIE |
|
| label |
Epidermolytic Ichthyosis |
|
| Legacy Concept Name |
Epidermolytic_Hyperkeratosis |
|
| Preferred_Name |
Epidermolytic Ichthyosis |
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| prefixIRI |
Thesaurus:C62569 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0079153 |
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| subClassOf |