This is just here as a test because I lose it
Term information
database
cross reference
- MESH:D046150
- ICD10CM:E34.3
- NCI:C130994
- UMLS_CUI:C0271568
- ORDO:633
- GARD:6859
- OMIM:262500
- SNOMEDCT_US_2020_03_01:38196001
Subsets
NCIthesaurus
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.