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hypogonadotropic hypogonadism 5 with or 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 CHD7 gene.
Uniprot Description A disorder 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. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Mondo Term and Equivalent IDs
MONDO:0012880:  hypogonadotropic hypogonadism 5 with or without anosmia
GARD:0010773: 
MESH:C567220: 
UMLS:C3552553: