Number of the records: 1
Alstromov syndróm
SYS d056769 LBL 00000nz--a2200000n--4500 005 20250606215447.6 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C10.500.300.099 065 $a C10.574.500.495.099 065 $a C10.668.829.800.300.099 065 $a C11.270.684.249 065 $a C16.131.077.245.063 065 $a C16.131.666.300.099 065 $a C16.320.184.063 065 $a C16.320.290.684.249 065 $a C16.320.400.375.099 066 $a 01 $c 03 150 $a Alstromov 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 Alstrom's Syndrome $2 eng 665 $a 2010 $2 eng 680 9-
$i Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. $2 eng 750 -2
$a Alstrom Syndrome $2 eng 980 $x M
Number of the records: 1