Epidermolysis bullosa simplex 5a, ogna type

Preferred Label : Epidermolysis bullosa simplex 5a, ogna type;

Symbol : EBS5A;

CISMeF acronym : EBSOG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex, ogna type; EBSOG;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the plectin 1 gene (PLEC1, 601282.0005);

Prefixed ID : #131950;

Details

Origin ID

131950;

UMLS CUI

C0432317;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex, Ogna [ICD-11 More detail]
- Epidermolysis bullosa simplex, Ogna type [MeSH concept]
- Epidermolysis bullosa simplex, Ogna type (disorder) [SNOMED CT concept]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- epidermolysis bullosa simplex Ogna type [DO Concept]
- epidermolysis bullosa simplex, ogna type [MeSH Supplementary Concept]
DO Cross reference
- epidermolysis bullosa simplex Ogna type [DO Concept]
Genes related to phenotype
- Plectin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Generalized bruising tendency [HPO term]
- Hypoplastic dermoepidermal hemidesmosomes [HPO term]
- Onychogryphosis of large toenails [HPO term]
- Onychogryposis of toenails [HPO term]
- Skin fragility with non-scarring blistering [HPO term]
ORDO concept(s)
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- autosomal dominant epidermolysis bullosa simplex [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex, Ogna type [MeSH concept]
- Epidermolysis bullosa simplex, Ogna type (disorder) [SNOMED CT concept]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- epidermolysis bullosa simplex Ogna type [DO Concept]
- epidermolysis bullosa simplex, ogna type [MeSH Supplementary Concept]

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