Search Ontology:
Human Disease

hypochondroplasia

Term ID
DOID:0080041
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
  • MIM:146000
  • NCI:C118697
  • ORDO:429
  • SNOMEDCT_US_2023_03_01:205468002
  • UMLS_CUI:C0410529
Ontology
Human Disease   ( DOID:0080041 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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