FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term kyphomelic dysplasia ID (Ontology) DOID:0061155 (Human Disease)
Definition A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.
Also Known As "pseudocampomelia"
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 Genes
 kyphomelic dysplasia       1
 for disease ribbon | kyphomelic dysplasia       1
 model of | kyphomelic dysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone disease                     |
 |__bone remodeling disease______|
                                 kyphomelic dysplasia  1 rec.
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Is a autosomal recessive disease
bone remodeling disease
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Synonyms
  • "pseudocampomelia" EXACT
Secondary IDs
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MIM:211350