hypochondroplasia

created [InstanceEdit:1625208] Rothfels, K, 2011-09-30
databaseName DOID
dbId 1625207
definition An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
displayName hypochondroplasia
identifier 0080041
name
  • hypochondroplasia
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0080041
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