Number of the records: 1
Wolframov syndróm
SYS d014929 LBL 00000cz--a2200000n--4500 005 20250606220319.2 008 920311|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C09.218.458.341.186.500.750 065 $a C10.292.700.225.500.980 065 $a C10.574.500.662.980 065 $a C10.597.751.418.341.186.500.750 065 $a C10.597.751.941.162.625.750 065 $a C11.270.564.980 065 $a C11.640.451.451.980 065 $a C11.966.075.375.750 065 $a C12.050.351.968.419.135.875 065 $a C12.200.777.419.135.875 065 $a C12.950.419.135.875 065 $a C16.131.077.299.750 065 $a C16.320.290.564.980 065 $a C16.320.400.630.980 065 $a C18.452.394.750.124.960 065 $a C19.246.267.960 065 $a C19.700.159.875 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a DIDMOAD $2 eng 450 $w v $a DIDMOAD Syndrome $2 eng 450 $w v $a DIDMOAD $2 slo 450 $w v $a DIDMOAD syndróm $2 slo 665 $a 86 $2 eng 665 $a Deafness (1966-1985) $2 eng 665 $a Diabetes Insipidus (1966-1985) $2 eng 665 $a Diabetes Mellitus, Insulin-Dependent (1984-1985) $2 eng 665 $a Optic Atrophy (1966-1985) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Wolfram Syndrome $2 eng 980 $x M
Number of the records: 1