loading...| Preferred Name |
EPIDERMOLYTIC HYPERKERATOSIS |
| Synonyms |
BIE |
| ID |
http://purl.bioontology.org/ontology/OMIM/113800 |
| altLabel |
BIE BULLOUS ICHTHYOSIFORM ERYTHRODERMA BCIE EPIDERMOLYTIC ICHTHYOSIS EHK BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET |
| cui |
C1862005 C0079153 |
| Gene Locus |
17q21-q22 |
| Gene Symbol |
BIE EHK BCIE IHL KRT10 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU035950 http://purl.bioontology.org/ontology/OMIM/MTHU036512 http://purl.bioontology.org/ontology/OMIM/MTHU036510 http://purl.bioontology.org/ontology/OMIM/MTHU012007 http://purl.bioontology.org/ontology/OMIM/MTHU010703 http://purl.bioontology.org/ontology/OMIM/MTHU036509 http://purl.bioontology.org/ontology/OMIM/MTHU036513 http://purl.bioontology.org/ontology/OMIM/MTHU036507 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
600648 |
| notation |
113800 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EPIDERMOLYTIC HYPERKERATOSIS |
| 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 |