Laron syndrome (DOID:9521)
Alliance: disease page
Synonyms: Laron-type isolated somatotropin defect
Alt IDs: OMIM:262500, ICD10CM:E34.321, MESH:D046150, NCI:C130994, ORDO:633, UMLS_CUI:C0271568
Definition: A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.