Disorder "Camurati-Engelmann disease"
Found 1 record
Disorder information
Disorder name:
Camurati-Engelmann disease 
Disoder ID:
OMIM entry:
Synonyms:
Diaphyseal dysplasia, progressive diaphyseal dysplasia, Engelman's disease 
Definition:
An osteosclerosis that has_material_basis_in mutations in the tgfb1 gene which results_in increased bone density located_in long bone. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
TNFSF11 TNFSF11:rs138818878 Expressivity  Altered severity  Assessment of genotype–phenotype associations  The polymorphism is associated with the disease severity.more more
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