| Metadata | |
|---|---|
| ID | DOID:0090091 |
| Name | hypogonadotropic hypogonadism 23 with or without anosmia |
| Definition | A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/1727547, https://www.ncbi.nlm.nih.gov/pubmed/22723313 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
46,XY disorder of sex development due to LHB deficiency [EXACT] 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency [EXACT] 46,XY DSD due to LHB deficiency [EXACT] 46,XY DSD due to luteinizing hormone subunit beta deficiency [EXACT] fertile eunuch syndrome [EXACT] leydig cell hypoplasia due to LHB deficiency [EXACT] Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency [EXACT] Pasqualini syndrome [EXACT] |
| Parent Relationships |