Počet záznamov: 1
achondroplázia
SYS d000130 LBL 00000cx--j2200000---45-- 005 20240119201445.3 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a achondroplázia $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 330 1-
$a An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) $8 eng 450 $a Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans $5 e $8 eng 450 $a achondroplázia ťažká, s oneskorením vývinu a s acanthosis nigricans $5 e $8 slo 450 $a SADDAN dysplázia $5 e $8 slo 550 $3 sllk_un_auth*d051498 $Y Receptor, Fibroblast Growth Factor, Type 3 $5 F $a receptor fibroblastového rastového faktora, typ 3 550 $3 sllk_un_auth*d051498 $Y Receptor, Fibroblast Growth Factor, Type 3 $5 B $a receptor fibroblastového rastového faktora, typ 3 686 $a C05.116.099.343.110 686 $a C05.116.099.708.017 686 $a C16.320.240.500 750 $a Achondroplasia $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20130110 801 -2
$a SK $b BA006 $c 20141016 980 $x M
Počet záznamov: 1