LD24.04
category
Chondrodysplasia punctata
Also indexed as
3-beta-hydroxysteroid C-4 dehydrogenase deficiency3-beta-hydroxysterol delta-14-reductase deficiencyAstley-Kendall dysplasiaCDPX2 - [Chondrodysplasia punctata, X-linked dominant]CHILD - [Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects] syndromeCalcinosis universalisChondrodysplasia punctataChondrodysplasia punctata from maternal diseaseChondrodysplasia punctata, Sheffield typeChondrodysplasia punctata, Toriello typeChondrodysplasia punctata, X-linked dominantChondrodysplasia punctata, autosomal recessive typeChondrodysplasia punctata, brachytelephalangic typeChondrodysplasia punctata, tibial-metacarpal typeChondrodystrophia calcificans congenitaCongenital hemidysplasia with ichthyosiform erythroderma and limbs defectsConradi-Hünermann-Happle syndromeDappled diaphyseal dysplasiaGreenberg dysplasiaHEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasiaHydrops - ectopic calcification - motheaten skeletal dysplasiaIsolated DHAP-AT deficiencyIsolated alkyl DHAP synthase deficiencyIsolated alkyl dihydroxyacetone phosphate synthase deficiencyIsolated dihydroxyacetone phosphate acyltransferase deficiencyPEX7 deficiencyPTS2 receptor deficiencyRCDP - [rhizomelic chondrodysplasia punctata]RCDP type 2 - [rhizomelic chondrodysplasia punctata type 2]RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]RCDP1 - [rhizomelic chondrodysplasia punctata type 1]Rhizomelic chondrodysplasia punctataRhizomelic chondrodysplasia punctata type 1Rhizomelic chondrodysplasia punctata type 2Rhizomelic chondrodysplasia punctata type 3Sterol D8-D7 isomerase deficiencyToriello-Higgins-Miller syndromechondrodysplasia punctata (stippled epiphyses) groupchondrodysplasia punctata congenitachondrodystrophy of punctatadysplasia epiphysealis punctatadysplasia punctatadysplasia punctata epiphysis