loading...| Preferred Name | epidermolytic ichthyosis | |
| Synonyms |
bullous ichthyosiform erythroderma congenita bullous erythroderma Ichthyosiformis congenita of Brocq congenital bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma autosomal dominant epidermolytic ichthyosis epidermolytic ichthyosis ichthyosis hystrix Brocq type bullous ichthyosis bullous congenital ichthyosiform erythroderma of Brock bullous congenital ichthyosiform erythroderma epidermolytic hyperkeratosis epidermolytic palmoplantar hyperkeratosis BCIE EHK EI |
|
| Definitions |
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007239 |
|
| database_cross_reference |
SCTID:254167000 UMLS:C0079153 MESH:D017488 MEDGEN:38179 OMIMPS:113800 icd11.foundation:1183730789 DOID:4603 NORD:1100 |
|
| definition |
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. |
|
| has_exact_synonym |
epidermolytic ichthyosis ichthyosis hystrix Brocq type bullous ichthyosis bullous congenital ichthyosiform erythroderma of Brock bullous congenital ichthyosiform erythroderma epidermolytic hyperkeratosis epidermolytic palmoplantar hyperkeratosis BCIE EHK EI |
|
| has_narrow_synonym |
autosomal dominant epidermolytic ichthyosis |
|
| has_related_synonym |
bullous ichthyosiform erythroderma congenita bullous erythroderma Ichthyosiformis congenita of Brocq congenital bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma |
|
| IAO_0000233 | ||
| id |
MONDO:0007239 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
epidermolytic ichthyosis |
|
| notation |
MONDO:0007239 |
|
| preferred label |
epidermolytic ichthyosis |
|
| prefLabel |
epidermolytic ichthyosis |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_4603 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1183730789 http://linkedlifedata.com/resource/umls/id/C0079153 http://identifiers.org/mesh/D017488 http://identifiers.org/medgen/38179 |
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| subClassOf |