Number of the records: 1  

Bardetov-Biedlov syndróm

  1. SYSd020788
    LBL
      
    00000nz--a2200000o--4500
    005
      
    20250606214023.7
    008
      
    991108|||anznnbabn-----------|-a|a------
    040
      
    $b slo $a DNLM $d BA006
    065
      
    $a C10.228.140.617.200
    065
      
    $a C11.270.684.624
    065
      
    $a C16.131.077.245.125
    065
      
    $a C16.320.184.125
    066
      
    $a 01 $c 03
    150
      
    $a Bardetov-Biedlov 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 Laurence-Moon-Bardet-Biedl Syndrome $2 eng
    450
      
    $w v $a Laurenceov-Moonov-Bardetov-Biedlov syndróm $2 slo
    450
      
    $w v $a Lawrenceov-Moonov-Biedlov-Bardetov syndróm $2 slo
    450
      
    $w v $a BBS $2 slo
    550
      
    $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne
    665
      
    $a 2000 $2 eng
    665
      
    $a Bardet-Biedl Syndrome (1966-1999) $2 eng
    680
    9-
    $i An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) $2 eng
    680
      
    $a note entry term: do not confuse with LAURENCE-MOON SYNDROME $2 eng
    750
    -2
    $a Bardet-Biedl Syndrome $2 eng
    980
      
    $x M
Number of the records: 1  

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