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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614748
http://purl.bioontology.org/ontology/OMIM/614748
|
|---|---|
| Preferred Name | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME |
| Synonyms |
JEB7
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
ILNEB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
JEB7
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
ILNEB
|
|---|---|
| prefLabel | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME
|
| Gene Symbol |
ITGA3
GAPB3
JEB7
CD49C
|
| Scope Statement | Caused by mutation in the alpha-3 integrin gene (ITGA3, 605025.0001) [MOLECULAR BASIS]
Skin blistering maybe absent in patients [MISCELLANEOUS]
Death in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614748
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4518785
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |