Search Ontology:
Human Disease

pseudoachondroplasia

Term ID
DOID:0080047
Synonyms
  • pseudoachondroplastic dysplasia
  • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
Definition
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (5)
References
Ontology
Human Disease   ( DOID:0080047 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations