Laron syndrome
Information
- Disease name
- Laron syndrome
- Disease ID
- DOID:9521
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/laron-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/8488849]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00368173 | Completed | Phase 2/Phase 3 | IGF-I/IGFBP-3 Therapy in Children and Adolescents With Growth Hormone Insenitivity Syndrome (GHIS) Such as Laron Syndrome |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6859
- Cross Reference ID (Disease Ontology)
- ICD10CM:E34.321
- Cross Reference ID (Disease Ontology)
- MESH:D046150
- Cross Reference ID (Disease Ontology)
- MIM:262500
- Cross Reference ID (Disease Ontology)
- NCI:C130994
- Cross Reference ID (Disease Ontology)
- ORDO:633
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:38196001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0271568
- Exact Synonym (Disease Ontology)
- Laron-type isolated somatotropin defect
- OrphaNumber from OrphaNet (Orphanet)
- 633
- MeSH unique ID (MeSH (Medical Subject Headings))
- D046150