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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/113800
http://purl.bioontology.org/ontology/OMIM/113800
|
|---|---|
| Preferred Name | EPIDERMOLYTIC HYPERKERATOSIS 1 |
| Synonyms |
BIE
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
BULLOUS ICHTHYOSIFORM ERYTHRODERMA
EPIDERMOLYTIC ICHTHYOSIS
EI
EHK1
BCIE
BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BIE
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
BULLOUS ICHTHYOSIFORM ERYTHRODERMA
EPIDERMOLYTIC ICHTHYOSIS
EI
EHK1
BCIE
BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
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|
|---|---|
| prefLabel | EPIDERMOLYTIC HYPERKERATOSIS 1
|
| Gene Symbol |
KRT1
EHK1
AEI2
NEPPK
EPPK
|
| Scope Statement | Blistering improves with age, replaced by hyperkeratosis [MISCELLANEOUS]
Caused by mutation in the keratin 1 gene (KRT1, 139350.0001) [MOLECULAR BASIS]
Secondary infection improves with age [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 113800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5781874
C0079153
|
| Moved from | 600648
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |