OBO ID: DOID:0090091
Term Name: hypogonadotropic hypogonadism 23 with or without anosmia Search Ontology:
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 hypogonadotropic hypogonadism 23 with or without anosmia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LHB Hypogonadotropic hypogonadism 23 with or without anosmia 228300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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