Osteosclerosis with ichthyosis and fractures

Preferred Label : Osteosclerosis with ichthyosis and fractures;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cortical thickening of long bones with bowing and ichthyosis;

Inheritance : Autosomal dominant;

Prefixed ID : 166740;

Details

Origin ID

166740;

UMLS CUI

C1833697;

Currated CISMeF NLP mapping
- osteosclerosis with ichthyosis and fractures [MeSH concept]
- osteosclerosis with ichthyosis and fractures [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cortical thickening of long bone diaphyses [HPO term]
- Femoral bowing [HPO term]
- Genu varus [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Increased bone mineral density [HPO term]
- Recurrent fractures [HPO term]
- Tibial bowing [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteosclerosis with ichthyosis and fractures [MeSH Supplementary Concept]
- osteosclerosis with ichthyosis and fractures [MeSH concept]

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