Axial osteomalacia

Preferred Label : Axial osteomalacia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant; ? same as osteomesopyknosis (166450);

Prefixed ID : 109130;

Details

Origin ID

109130;

UMLS CUI

C1862372;

Currated CISMeF NLP mapping
- Axial osteomalacia [MeSH concept]
- axial osteomalacia [DO Concept]
- axial osteomalacia [MeSH Supplementary Concept]
DO Cross reference
- axial osteomalacia [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Increased bone mineral density [HPO term]
- Myopathic changes on muscle biopsy [HPO term]
- Myopathy [HPO term]
- Osteomalacia [HPO term]
- Polycystic liver disease [HPO term]
- Proximal muscle weakness [HPO term]
- Renal cyst [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axial osteomalacia [MeSH concept]
- axial osteomalacia [MeSH Supplementary Concept]
- axial osteomalacia [DO Concept]

Keyword's position in hierarchy(ies) :

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