Paget disease of bone 6

Preferred Label : Paget disease of bone 6;

Symbol : PDB6;

CISMeF acronym : PDB6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein 687 gene (ZNF687, 610568.0001);

Neoplasia : Increased risk of giant cell tumor of bone;

Laboratory abnormalities : Increased alkaline phosphatase;

Prefixed ID : #616833;

Details

Origin ID

616833;

UMLS CUI

C4085250;

Genes related to phenotype
- Zinc finger protein 687 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Left ventricular hypertrophy [HPO term]
- Nephrocalcinosis [HPO term]
- Osteoarthritis [HPO term]
- Recurrent fractures [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients