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Costellov syndróm
SYS d056685 LBL 00000nz--a2200000n--4500 005 20250606214951.8 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C05.660.207.219 065 $a C16.131.077.256 065 $a C16.320.188 066 $a 01 $c 03 150 $a Costellov 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 Faciocutaneoskeletal Syndrome $2 eng 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w b $a Noonanovej syndróm 550 $7 sllk_us_auth*d011905 $Y Genes, ras $w b $a gény ras 550 $7 sllk_us_auth*d016283 $Y Proto-Oncogene Proteins p21(ras) $w b $a proteíny protoonkogénové p21(ras) 550 $7 sllk_us_auth*d009634 $Y Noonan Syndrome $w p $a Noonanovej syndróm 550 $7 sllk_us_auth*d011905 $Y Genes, ras $w p $a gény ras 550 $7 sllk_us_auth*d016283 $Y Proto-Oncogene Proteins p21(ras) $w p $a proteíny protoonkogénové p21(ras) 665 $a 2010 $2 eng 680 9-
$i Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome). $2 eng 750 -2
$a Costello Syndrome $2 eng 980 $x M
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