Epidermolysis bullosa, junctional 4, intermediate

Preferred Label : Epidermolysis bullosa, junctional 4, intermediate;

Symbol : JEB4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa, junctional, localisata variant; Epidermolysis bullosa, junctional 4, non-herlitz type; Epidermolysis bullosa, generalized atrophic benign; GABEB;

Prefixed ID : #619787;

Details

Origin ID

619787;

UMLS CUI

C2608084;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa, junctional [MeSH Descriptor]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
- epidermolysis bullosa, junctional, localisata variant [MeSH concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
Genes related to phenotype
- Collagen, type XVII, alpha-1 [OMIM gene]
ORDO concept(s)
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epidermolysis bullosa, junctional, localisata variant [MeSH concept]
Validated automatic mappings to NTBT
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa, generalised intermediate type [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients