Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Disease ID: disease_node_17179
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q56.1, MIM:228300, ORDO:325448 |
|---|---|
| Subclassof | DOID_0050737, DOID_0090070 |
| Data Source | DOID |
| Synonyms | 46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, 46,XY disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, Pasqualini syndrome, fertile eunuch syndrome, leydig cell hypoplasia due to LHB deficiency |
| Doid Label | hypogonadotropic hypogonadism 23 with or without anosmia |
| Doid Description | A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17179 |
| Doid Id | DOID_0090091 |
| Label | Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
- Outgoing r'ship
SUBCLASS_OFto/from Hypogonadotropic Hypogonadism(ID:disease_node_17175) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)