loading...| Preferred Name |
Laron syndrome |
| Synonyms |
Laron-type isolated somatotropin defect |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_9521 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2020_03_01:38196001 GARD:6859 ICD10CM:E34.3 UMLS_CUI:C0271568 ORDO:633 NCI:C130994 OMIM:262500 MESH:D046150 |
| has exact synonym |
Laron-type isolated somatotropin defect |
| id |
DOID:9521 |
| in_subset | |
| label |
Laron syndrome |
| notation |
DOID:9521 |
| prefLabel |
Laron syndrome |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |