Source:http://linkedlifedata.com/resource/lhgdn/association:24796
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
nonstop mutation in the stop codon and missense mutation in type II 3beta-hydroxysteroid dehydrogenase gene causing 3beta-HSD deficiency congenital adrenal hyperplasia.
|
| lhgdn:mesh_code |
D000312
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |