Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615425
http://purl.bioontology.org/ontology/OMIM/615425
|
|---|---|
| Preferred Name | EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY |
| Synonyms |
EBS3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EBS3
|
|---|---|
| prefLabel | EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY
|
| Gene Symbol |
BPAG1
DST
EBS3
HSAN6
DMH
D6S1101
See more
See less
|
| Scope Statement | Phenotypic variability [MISCELLANEOUS]
Blistering may worsen during the summer [MISCELLANEOUS]
Caused by mutation in the dystonin gene (DST, 113810.0002) [MOLECULAR BASIS]
Variable age at onset (primarily in childhood) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 6p12-p11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615425
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809470
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |