OBO ID: DOID:0080041
Term Name: hypochondroplasia Search Ontology:
Synonyms:
Definition: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (3)
References:
  • GARD:6724
  • ICD10CM:Q77.4
  • MESH:C562937
  • NCI:C118697
  • OMIM:146000
  • ORDO:429
  • SNOMEDCT_US_2023_03_01:205468002
  • UMLS_CUI:C0410529
Ontology: Human Disease   ( DOID:0080041 )
OTHER hypochondroplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR3 Hypochondroplasia 146000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None