Number of the records: 1
Nethertonov syndróm
SYS d056770 LBL 00000nx--j22000003--45-- 005 20240119201505.7 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a Nethertonov 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 2010 $8 eng 300 1-
$a Ichthyosiform Erythroderma, Congenital (1992-2009) $8 eng 330 1-
$a Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. $8 eng 450 $a Netherton Disease $5 e $8 eng 450 $a Nethertonova choroba $5 e $8 slo 550 $3 sllk_un_auth*d000074163 $Y Serine Peptidase Inhibitor Kazal-Type 5 $5 B $a inhibítory serínových peptidáz Kazalovho typu 5 550 $3 sllk_un_auth*d000074163 $Y Serine Peptidase Inhibitor Kazal-Type 5 $5 F $a inhibítory serínových peptidáz Kazalovho typu 5 686 $a C16.131.077.619 686 $a C16.131.831.512.400.705 686 $a C16.320.850.673 686 $a C16.614.492.400.705 686 $a C17.800.428.333.250.705 686 $a C17.800.804.512.400.705 686 $a C17.800.827.655 750 $a Netherton Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20100929 801 -2
$a SK $b BA006 $c 20181019 980 $x M
Number of the records: 1