loading...| Preferred Name |
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN |
| Synonyms |
DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/131705 |
| altLabel |
DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL TBDN EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM |
| cui |
C1851573 |
| Gene Locus |
3p21.3 |
| Gene Symbol |
COL7A1 NDNC8 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU024226 http://purl.bioontology.org/ontology/OMIM/MTHU024224 http://purl.bioontology.org/ontology/OMIM/MTHU022426 http://purl.bioontology.org/ontology/OMIM/MTHU010421 http://purl.bioontology.org/ontology/OMIM/MTHU024221 http://purl.bioontology.org/ontology/OMIM/MTHU022427 http://purl.bioontology.org/ontology/OMIM/MTHU022425 http://purl.bioontology.org/ontology/OMIM/MTHU024227 http://purl.bioontology.org/ontology/OMIM/MTHU024225 http://purl.bioontology.org/ontology/OMIM/MTHU036684 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
131705 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN |
| Scope Statement |
Onset at birth [MISCELLANEOUS] Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0014). [MOLECULAR BASIS] Some patients have milder persistent blistering [MISCELLANEOUS] Skin lesions resolve between 6 months and 2 years of age [MISCELLANEOUS] |
| tui |
T047 |