Skin fragility-woolly hair syndrome

Preferred Label : Skin fragility-woolly hair syndrome;

Obsolete resource : true;

Moved to : 605676;

Symbol : SFWHS;

CISMeF acronym : SFWHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the desmoplakin gene (DSP, 125647.0004);

Prefixed ID : 607655;

Details

Origin ID

607655;

UMLS CUI

C1843292;

Automatic exact mappings (from CISMeF team)
- Skin fragility-woolly hair syndrome [ICD-11 More detail]
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- skin Fragility-Woolly hair syndrome [MeSH concept]
- skin Fragility-Woolly hair syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Acantholysis [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Failure to thrive [HPO term]
- Fragile skin [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratosis with erythema and scale [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- skin Fragility-Woolly hair syndrome [MeSH Supplementary Concept]
- skin Fragility-Woolly hair syndrome [MeSH concept]

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