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Online Mendelian Inheritance in Man
| 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 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/113800 |
|
| altLabel |
BIE BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ BULLOUS ICHTHYOSIFORM ERYTHRODERMA EPIDERMOLYTIC ICHTHYOSIS EI EHK1 BCIE BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
|
|
| cui |
C5781874 C0079153
|
|
| Gene Locus |
12q13
|
|
| Gene Symbol |
KRT1 EHK1 AEI2 NEPPK EPPK
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU077388 http://purl.bioontology.org/ontology/OMIM/MTHU034822 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU077391 http://purl.bioontology.org/ontology/OMIM/MTHU077395 http://purl.bioontology.org/ontology/OMIM/MTHU077393 http://purl.bioontology.org/ontology/OMIM/MTHU002742 http://purl.bioontology.org/ontology/OMIM/MTHU077394 http://purl.bioontology.org/ontology/OMIM/MTHU077389 http://purl.bioontology.org/ontology/OMIM/MTHU009447 http://purl.bioontology.org/ontology/OMIM/MTHU030802 http://purl.bioontology.org/ontology/OMIM/MTHU030805 http://purl.bioontology.org/ontology/OMIM/MTHU077392 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| Moved from |
600648
|
|
| notation |
113800
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
EPIDERMOLYTIC HYPERKERATOSIS 1
|
|
| 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]
|
|
| tui |
T047
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |