FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term campomelic dysplasia ID (Ontology) DOID:0050463 (Human Disease)
Definition An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Also Known As "Acampomelic Campomelic Dysplasia"
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 Genes
 campomelic dysplasia       1
 for disease ribbon | campomelic dysplasia       1
 model of | campomelic dysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                campomelic dysplasia  1 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
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Synonyms
  • "Acampomelic Campomelic Dysplasia" EXACT
Secondary IDs
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GARD:10027
MESH:D055036
MIM:114290
NCI:C120205
NCI:C84609
ORDO:140
UMLS_CUI:C1861922
UMLS_CUI:C1861923