LD24.04
Chondrodysplasia punctata
Condrodisplasia puntacta
CategoryIndex Terms
Chondrodysplasia punctatachondrodysplasia punctata (stippled epiphyses) groupchondrodysplasia punctata congenitadysplasia punctata epiphysisdysplasia punctatadysplasia epiphysealis punctatachondrodystrophy of punctataRhizomelic chondrodysplasia punctataChondrodysplasia punctata, autosomal recessive typeRCDP - [rhizomelic chondrodysplasia punctata]Rhizomelic chondrodysplasia punctata type 1PTS2 receptor deficiencyPEX7 deficiencyRCDP1 - [rhizomelic chondrodysplasia punctata type 1]Rhizomelic chondrodysplasia punctata type 2Isolated DHAP-AT deficiencyIsolated dihydroxyacetone phosphate acyltransferase deficiencyRCDP type 2 - [rhizomelic chondrodysplasia punctata type 2]Rhizomelic chondrodysplasia punctata type 3Isolated alkyl DHAP synthase deficiencyRCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]Isolated alkyl dihydroxyacetone phosphate synthase deficiencyChondrodysplasia punctata, X-linked dominantChondrodystrophia calcificans congenitaConradi-Hünermann-Happle syndromeCalcinosis universalisSterol D8-D7 isomerase deficiencyCDPX2 - [Chondrodysplasia punctata, X-linked dominant]Chondrodysplasia punctata, brachytelephalangic typeChondrodysplasia punctata, tibial-metacarpal typeChondrodysplasia punctata, Toriello typeToriello-Higgins-Miller syndromeGreenberg dysplasiaHydrops - ectopic calcification - motheaten skeletal dysplasia3-beta-hydroxysterol delta-14-reductase deficiencyHEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasiaCongenital hemidysplasia with ichthyosiform erythroderma and limbs defects3-beta-hydroxysteroid C-4 dehydrogenase deficiencyCHILD - [Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects] syndromeAstley-Kendall dysplasiaDappled diaphyseal dysplasiaChondrodysplasia punctata, Sheffield typeChondrodysplasia punctata from maternal disease