| Metadata | |
|---|---|
| ID | DOID:9521 |
| Name | Laron syndrome |
| 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. https://ghr.nlm.nih.gov/condition/laron-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/8488849 |
| Xrefs |
SNOMEDCT_US_2023_03_01:38196001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Laron-type isolated somatotropin defect [EXACT] |
| Parent Relationships |
is_a syndrome |