Search Ontology:
Human Disease

campomelic dysplasia

Term ID
DOID:0050463
Synonyms
  • Acampomelic Campomelic Dysplasia
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. (3)
References
Ontology
Human Disease   ( DOID:0050463 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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