Ectodermal dysplasia/skin fragility syndrome

Preferred Label : Ectodermal dysplasia/skin fragility syndrome;

Symbol : EDSFS;

CISMeF acronym : EDSFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mcgrath syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in plakophilin 1 (PKP1, 601975.0001);

Prefixed ID : #604536;

Details

Origin ID

604536;

UMLS CUI

C1858302;

Automatic exact mappings (from CISMeF team)
- plakophilin 1 [ORDO Gene]
- plakophilin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH concept]
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH Supplementary Concept]
- Ectodermal dysplasia – skin fragility syndrome [ICD-11 More detail]
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
- Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Plakophilin 1 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dystrophic fingernails [HPO term]
- Ectodermal dysplasia [HPO term]
- Fragile skin [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Scaling skin [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH Supplementary Concept]
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH concept]
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
- Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients