Laron Syndrome
Disease ID: disease_node_11271
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| Dbxref | GARD:6859, ICD10CM:E34.321, MESH:D046150, MIM:262500, NCI:C130994, ORDO:633, SNOMEDCT_US_2023_03_01:38196001, UMLS_CUI:C0271568 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Laron-type isolated somatotropin defect |
| Mesh Id | D046150 |
| Mesh Label | Laron Syndrome |
| Mesh Subclassof | D004392 |
| Doid Label | Laron syndrome |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11271 |
| Doid Id | DOID_9521 |
| Label | Laron Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)