| umls-concept:C0162809 | skos:definition | MSH: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.,CSP: anosmia due to failure of the olfactory lobes to develop, with secondary hypogonadism due to gonadotropic hormone deficiency.,NCI: An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.,JABL: A syndrome, sometimes considered as three separate entities (Kalmann syndromes 1, 2, and 3), characterized mainly by reduced hypothalamic function and reduced pituitary gonadotropic activity and deficiency of gonadotropin-releasing hormone with resulting hypogonadism and absent or reduced sense of smell due to agenesis of the olfactory bulbs. Associated anomalies include cleft palate, neurosensory hearing loss, cong | lld:umls |
