OBO ID: DOID:9521
Term Name: Laron syndrome Search Ontology:
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:E34.3
  • MESH:D046150
  • NCI:C130994
  • OMIM:262500
  • ORDO:633
  • SNOMEDCT_US_2022_03_01:38196001
  • UMLS_CUI:C0271568
Ontology: Human Disease   (DOID:9521)
OTHER Laron syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GHR Laron dwarfism 262500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None