loading...| Preferred Name |
EPIDERMOLYTIC HYPERKERATOSIS 1 |
|
| Synonyms |
BIE |
|
| 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/MTHU012007 http://purl.bioontology.org/ontology/OMIM/MTHU036511 http://purl.bioontology.org/ontology/OMIM/MTHU010703 http://purl.bioontology.org/ontology/OMIM/MTHU036510 http://purl.bioontology.org/ontology/OMIM/MTHU036508 http://purl.bioontology.org/ontology/OMIM/MTHU036513 http://purl.bioontology.org/ontology/OMIM/MTHU036507 http://purl.bioontology.org/ontology/OMIM/MTHU036509 |
|
| 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 |
Homozygous mutations in KRT10 (e.g., 148080.0019) have been reported in some EHK families [MISCELLANEOUS] Caused by mutation in the keratin 10 gene (KRT10, 148080.0001) [MOLECULAR BASIS] Caused by mutation in the keratin 1 gene (KRT1, 139350.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |