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Donohueov syndróm
SYS d056731 LBL 00000nz--a2200000n--4500 005 20250606214952.6 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C05.660.207.325 065 $a C16.131.077.313 065 $a C16.320.215 065 $a C18.452.394.750.654 065 $a C19.246.537 066 $a 01 $c 03 150 $a Donohueov 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 Leprechaunism $2 eng 450 $w v $a Mendenhall Syndrome $2 eng 450 $w v $a Rabson-Mendenhall Syndrome $2 eng 450 $w v $a leprechaunizmus $2 slo 450 $w v $a Mendenhallov syndróm $2 slo 450 $w v $a Rabsonov-Mendenhallov syndróm $2 slo 550 $7 sllk_us_auth*d011972 $Y Receptor, Insulin $w b $a receptor inzulínový 550 $7 sllk_us_auth*d007333 $Y Insulin Resistance $w p $a rezistencia inzulínová 550 $7 sllk_us_auth*d011972 $Y Receptor, Insulin $w p $a receptor inzulínový 665 $a 2010 $2 eng 665 $a Abnormalities, Multiple (2002-2009) $2 eng 665 $a Acanthosis Nigricans (2002-2009) $2 eng 665 $a Diabetes Mellitus (2000-2009) $2 eng 680 9-
$i Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death. $2 eng 750 -2
$a Donohue Syndrome $2 eng 980 $x M
Počet záznamov: 1