Number of the records: 1
chondrodysplasia punctata
SYS d002806 LBL 00000cz--a2200000o--4500 005 20250606212927.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C05.116.099.708.195 066 $a 01 $c 03 150 $a chondrodysplasia punctata $x BL $x CF $x CI $x CL $x CN $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 Chondrodystrophia Calcificans Congenita $2 eng 450 $w v $a Conradi-Hunermann Syndrome $2 eng 450 $w v $a Dysplasia Epiphysialis Punctata $2 eng 450 $w v $a Epiphyses, Stippled $2 eng 450 $w v $a Stippled Epiphyses $2 eng 450 $w v $a chondrodysplázia kalcifikovaná kongenitálna $2 slo 450 $w v $a Conradiho-Hünermanov syndróm $2 slo 450 $w v $a dysplasia epiphysialis punctata $2 slo 450 $w v $a chondrodysplasia calcificans congenita $2 slo 665 $a 1985(1964) $2 eng 680 9-
$i A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. $2 eng 680 $a spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available $2 eng 750 -2
$a Chondrodysplasia Punctata $2 eng 980 $x M
Number of the records: 1