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loading...| Preferred Name | EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED | |
| Synonyms |
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET EBS, ACRAL FORM EBS1C EPIDERMOLYSIS BULLOSA SIMPLEX 1C, WEBER-COCKAYNE TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/131800 |
|
| altLabel |
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET EBS, ACRAL FORM EBS1C EPIDERMOLYSIS BULLOSA SIMPLEX 1C, WEBER-COCKAYNE TYPE |
|
| cui |
C0080333 |
|
| Gene Locus |
17q21.1 |
|
| Gene Symbol |
EBS1D EBS1C KRT14 EBS1B EBS1A |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
131800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED |
|
| Scope Statement |
Onset in early childhood [MISCELLANEOUS] Caused by mutation in the keratin 14 gene (KRT14, 148066.0005) [MOLECULAR BASIS] Disease exacerbation during summer due to heat [MISCELLANEOUS] |
|
| tui |
T047 |
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