Search Ontology:
Human Disease

hypogonadotropic hypogonadism 23 with or without anosmia

Term ID
DOID:0090091
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
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (2)
References
Ontology
Human Disease   ( DOID:0090091 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models