loading...| Preferred Name | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT | |
| Synonyms |
EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE EBDSC DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT EBDCT DDEB EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/131750 |
|
| altLabel |
EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE EBDSC DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT EBDCT DDEB EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE |
|
| cui |
C0079136 C0432322 C2675683 |
|
| Gene Locus |
3p21.3 |
|
| Gene Symbol |
NDNC8 COL7A1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022418 http://purl.bioontology.org/ontology/OMIM/MTHU010421 http://purl.bioontology.org/ontology/OMIM/MTHU022425 http://purl.bioontology.org/ontology/OMIM/MTHU024221 http://purl.bioontology.org/ontology/OMIM/MTHU022427 http://purl.bioontology.org/ontology/OMIM/MTHU023424 http://purl.bioontology.org/ontology/OMIM/MTHU022417 http://purl.bioontology.org/ontology/OMIM/MTHU023390 http://purl.bioontology.org/ontology/OMIM/MTHU022416 http://purl.bioontology.org/ontology/OMIM/MTHU022429 http://purl.bioontology.org/ontology/OMIM/MTHU022426 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
131750 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
|
| Scope Statement |
Intrafamilial variability [MISCELLANEOUS] Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0002). [MOLECULAR BASIS] Onset at birth or infancy [MISCELLANEOUS] See also recessive DEB (226600), an allelic disorder with a more severe phenotype [MISCELLANEOUS] Blistering and erosions tend to occur on extensor surfaces or over bony prominences [MISCELLANEOUS] Blistering frequency may decrease with age [MISCELLANEOUS] Blisters are precipitated by minor skin trauma [MISCELLANEOUS] |
|
| tui |
T047 T019 |