Number of the records: 1
Kallmannov syndróm
Record number d017436 Date 06.06.2025 Type M - MESH Topical term Kallmannov syndróm See also (Later heading) hormón uvoľňujúci gonadotropín
(Skutočné meno) hormón uvoľňujúci gonadotropín
(Skutočné meno) receptor fibroblastového rastového faktora, typ 1
(Later heading) receptor fibroblastového rastového faktora, typ 1
UDC C12.050.351.875.253.096.750C12.200.706.316.096.750C12.800.316.096.750C16.131.939.316.096.750C16.320.467C19.391.119.096.750C19.391.482.600 Note 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. subject heading
Number of the records: 1