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hypogonadotropic hypogonadism 24 without anosmia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
Uniprot Description A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility.
Mondo Term and Equivalent IDs
MONDO:0009239:  hypogonadotropic hypogonadism 24 without anosmia
GARD:0010128: 
MESH:C537070: 
Orphanet:52901: 
SCTID:758664007: 
UMLS:C1856716: