Term Name: | Laron syndrome |
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Synonyms: | Laron-type isolated somatotropin defect |
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. |
Ontology: | Human Disease [DOID:9521] ( DOID:9521 ) |