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loading...| Preferred Name | Epidermolytic Ichthyosis | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_C62569 |
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| code |
C62569 |
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| 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. |
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| in_subset | ||
| label |
Epidermolytic Ichthyosis |
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| Legacy Concept Name |
Epidermolytic_Hyperkeratosis |
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| Preferred_Name |
Epidermolytic Ichthyosis |
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| prefixIRI |
NCIT:C62569 |
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| prefLabel |
Epidermolytic Ichthyosis |
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| Semantic_Type |
Finding |
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| UMLS_CUI |
C0079153 |
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| subClassOf |
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