Počet záznamov: 1
Wolframov syndróm
SYS d014929 LBL 00000cx--j2200000---45-- 005 20240119200058.5 100 $a 19920311asloy0103----ba0 152 $b mesh 250 $a Wolframov syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 86 $8 eng 300 1-
$a Deafness (1966-1985) $8 eng 300 1-
$a Diabetes Insipidus (1966-1985) $8 eng 300 1-
$a Diabetes Mellitus, Insulin-Dependent (1984-1985) $8 eng 300 1-
$a Optic Atrophy (1966-1985) $8 eng 330 1-
$a A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. $8 eng 450 $a DIDMOAD $5 e $8 eng 450 $a DIDMOAD Syndrome $5 e $8 eng 450 $a DIDMOAD $5 e $8 slo 450 $a DIDMOAD syndróm $5 e $8 slo 686 $a C09.218.458.341.186.500.750 686 $a C10.292.700.225.500.980 686 $a C10.574.500.662.980 686 $a C10.597.751.418.341.186.500.750 686 $a C10.597.751.941.162.625.750 686 $a C11.270.564.980 686 $a C11.640.451.451.980 686 $a C11.966.075.375.750 686 $a C12.050.351.968.419.135.875 686 $a C12.200.777.419.135.875 686 $a C12.950.419.135.875 686 $a C16.131.077.299.750 686 $a C16.320.290.564.980 686 $a C16.320.400.630.980 686 $a C18.452.394.750.124.960 686 $a C19.246.267.960 686 $a C19.700.159.875 750 $a Wolfram Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920311 801 -2
$a SK $b BA006 $c 20010515 801 -2
$a SK $b BA006 $c 20110111 980 $x M
Počet záznamov: 1