OBO ID: DOID:0050463
Term Name: campomelic dysplasia Search Ontology:
Synonyms:
  • Acampomelic Campomelic Dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (3)
References:
  • GARD:10027
  • MESH:D055036
  • NCI:C120205
  • NCI:C84609
  • OMIM:114290
  • ORDO:140
  • SNOMEDCT_US_2020_09_01:74928006
  • UMLS_CUI:C1861922
  • UMLS_CUI:C1861923
Ontology: Human Disease   (DOID:0050463)
OTHER campomelic dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX9 Campomelic dysplasia 114290
Campomelic dysplasia with autosomal sex reversal 114290
Acampomelic campomelic dysplasia 114290
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None