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loading...| Preferred Name |
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS |
| Synonyms |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
| ID |
http://purl.bioontology.org/ontology/OMIM/132000 |
| altLabel |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
| cui |
C0268371 |
| Gene Locus |
3p21.3 |
| Gene Symbol |
COL7A1 NDNC8 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
132000 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS |
| tui |
T019 |