loading...| Preferred Name | epidermolytic ichthyosis | |
| Synonyms |
autosomal dominant epidermolytic ichthyosis bullous ichthyosiform erythroderma congenita bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma epidermolytic hyperkeratosis, late-onset bullous erythroderma Ichthyosiformis congenita of Brocq BCIE epidermolytic ichthyosis epidermolytic hyperkeratosis EHK bullous congenital ichthyosiform erythroderma of Brock bullous ichthyosis ichthyosis hystrix Brocq type EI bullous congenital ichthyosiform erythroderma epidermolytic palmoplantar hyperkeratosis |
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| Definitions |
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007239 |
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| comment |
Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? |
|
| altLabel |
autosomal dominant epidermolytic ichthyosis bullous ichthyosiform erythroderma congenita bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma epidermolytic hyperkeratosis, late-onset bullous erythroderma Ichthyosiformis congenita of Brocq BCIE epidermolytic ichthyosis epidermolytic hyperkeratosis EHK bullous congenital ichthyosiform erythroderma of Brock bullous ichthyosis ichthyosis hystrix Brocq type EI bullous congenital ichthyosiform erythroderma epidermolytic palmoplantar hyperkeratosis |
|
| definition |
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? |
|
| has_exact_synonym |
BCIE epidermolytic ichthyosis epidermolytic hyperkeratosis EHK bullous congenital ichthyosiform erythroderma of Brock bullous ichthyosis ichthyosis hystrix Brocq type EI bullous congenital ichthyosiform erythroderma epidermolytic palmoplantar hyperkeratosis |
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| has_narrow_synonym |
autosomal dominant epidermolytic ichthyosis |
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| has_related_synonym |
bullous ichthyosiform erythroderma congenita bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma epidermolytic hyperkeratosis, late-onset bullous erythroderma Ichthyosiformis congenita of Brocq |
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| label |
epidermolytic ichthyosis |
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| prefixIRI |
MONDO:0007239 |
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| prefLabel |
epidermolytic ichthyosis |
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| textual definition |
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. |
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| subClassOf |