OBO ID: DOID:0080047
Term Name: pseudoachondroplasia Search Ontology:
Synonyms:
  • PSEUDOACHONDROPLASIA
  • 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)
OTHER pseudoachondroplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COMP Pseudoachondroplasia 177170
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None