Search Ontology:
Human Disease

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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models