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hypogonadotropic hypogonadism 23 with or without anosmia (DOID:0090091)
Alliance: disease page
Synonyms: 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; fertile eunuch syndrome; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome
Alt IDs: OMIM:228300, ICD10CM:Q56.1, ORDO:325448
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory