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hypochondroplasia

^ http://purl.obolibrary.org/obo/DOID_0080041


An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. [ url:http://en.wikipedia.org/wiki/Hypochondroplasia url:http://ghr.nlm.nih.gov/condition/hypochondroplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1477/ ]

Term info

database cross reference
  • ORDO:429
  • OMIM:146000
  • GARD:6724
  • UMLS_CUI:C0410529
  • MESH:C562937
  • ICD10CM:Q77.4
has obo namespace

disease_ontology

id

DOID:0080041