Počet záznamov: 1
syndróm okulocerebrorenálny
SYS d009800 LBL 00000cx--j22000003--45-- 005 20240119201510.7 100 $a 19920519csloy0103----ba0 152 $b mesh 250 $a syndróm okulocerebrorenálny $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 1991(1977) $8 eng 300 1-
$a Abnormalities, Multiple (1968-1976) $8 eng 300 1-
$a Eye Diseases (1966-1976) $8 eng 300 1-
$a Kidney Diseases (1966-1976) $8 eng 330 1-
$a A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) $8 eng 450 $a Cerebrooculorenal Syndrome $5 e $8 eng 450 $a Lowe Syndrome $5 e $8 eng 450 $a Loweho syndróm $5 e $8 slo 450 $a syndróm cerebrookulorenálny $5 e $8 slo 550 $3 sllk_un_auth*d057973 $Y Dent Disease $5 B $a Dentova choroba 686 $a C10.228.140.163.100.640 686 $a C12.050.351.968.419.815.720 686 $a C12.200.777.419.815.720 686 $a C12.950.419.815.720 686 $a C16.131.077.662 686 $a C16.320.322.750 686 $a C16.320.565.151.600 686 $a C16.320.565.189.640 686 $a C16.320.709 686 $a C16.320.831.750 686 $a C18.452.132.100.640 686 $a C18.452.648.151.600 686 $a C18.452.648.189.640 750 $a Oculocerebrorenal Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920519 801 -2
$a SK $b BA006 $c 20010521 980 $x M
Počet záznamov: 1