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hypogonadotropic hypogonadism 13 with or without anosmia
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 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).
Disease Ontology Description A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.
Mondo Term and Equivalent IDs
MONDO:0013915: hypogonadotropic hypogonadism 13 with or without anosmia
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Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090073
OMIM:614842
UMLS:C3541462
MONDO:0013915
High level summary of knowledge for a disease, including descriptions and datasource references.