hypogonadotropic hypogonadism 23 with or without anosmia

Summary

DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia

Disease Ontology Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.

Synonyms: fertile eunuch syndrome, 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, leydig cell hypoplasia due to LHB deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, Pasqualini syndrome, 46,XY disorder of sex development due to LHB deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lhb, gnrhr, lhb.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009223 - hypogonadotropic hypogonadism 23 with or without anosmia

MONDO:0009223 - hypogonadotropic hypogonadism 23 with or without anosmia

MIM:

MIM:228300 - HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA; HH23

MIM:228300 - HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA; HH23

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), hypogonadotropic hypogonadism (is_a)