Number of the records: 1
Costellov syndróm
SYS d056685 LBL 00000nx--j2200000---45-- 005 20240119201504.6 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2010 $8 eng 330 1-
$a 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). $8 eng 450 $a Faciocutaneoskeletal Syndrome $5 e $8 eng 550 $3 sllk_un_auth*d009634 $Y Noonan Syndrome $5 B $a Noonanovej syndróm 550 $3 sllk_un_auth*d011905 $Y Genes, ras $5 B $a gény ras 550 $3 sllk_un_auth*d016283 $Y Proto-Oncogene Proteins p21(ras) $5 B $a proteíny protoonkogénové p21(ras) 550 $3 sllk_un_auth*d011905 $Y Genes, ras $5 F $a gény ras 550 $3 sllk_un_auth*d009634 $Y Noonan Syndrome $5 F $a Noonanovej syndróm 550 $3 sllk_un_auth*d016283 $Y Proto-Oncogene Proteins p21(ras) $5 F $a proteíny protoonkogénové p21(ras) 686 $a C05.660.207.219 686 $a C16.131.077.256 686 $a C16.320.188 750 $a Costello Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20100505 980 $x M
Number of the records: 1