Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive

Preferred Label : Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive;

Symbol : EBS1D;

CISMeF acronym : EBSB1;

Type : Phenotype, molecular basis known;

Description : Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., 131800, 131760, and 131900), but autosomal recessive inheritance has been described (Fine et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the keratin-14 gene (KRT14, 148066.0004).;

Prefixed ID : #601001;

Details

Origin ID

601001;

UMLS CUI

C3715082;

Automatic exact mappings (from CISMeF team)
- Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency [ICD-11 More detail]
DO Cross reference
- epidermolysis bullosa simplex [DO Concept]
Genes related to phenotype
- Keratin 14, type I [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Onychogryposis [HPO term]
- Oral mucosal blisters [HPO term]
- Ridged nail [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive generalized epidermolysis bullosa simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Autosomal recessive generalized epidermolysis bullosa simplex [ORDO Disease]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex, autosomal recessive [MeSH concept]
- epidermolysis bullosa simplex, autosomal recessive [MeSH Supplementary Concept]

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