Laron syndrome

Term ID

DOID:9521

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. (2)

References

• GARD:6859
• ICD10CM:E34.321
• MESH:D046150
• MIM:262500
• NCI:C130994
• ORDO:633
• SNOMEDCT_US_2023_03_01:38196001
• UMLS_CUI:C0271568

Ontology

Human Disease   ( DOID:9521 )