[Multiple epiphyseal dysplasia]. 1977

M Eguchi, and A Nishio

UI MeSH Term Description Entries
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002806 Chondrodysplasia Punctata 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. Chondrodystrophia Calcificans Congenita,Conradi-Hunermann Syndrome,Dysplasia Epiphysialis Punctata,Epiphyses, Stippled,Stippled Epiphyses,Chondrodysplasia Punctata 2, X-Linked,Chondrodysplasia Punctata 2, X-Linked Dominant,Conradi Hunermann Happle Syndrome,Conradi-Hunermann-Happle Syndrome,Conradi-Hünermann Syndrome,Conradi-Hünermann-Happle Syndrome,Happle Syndrome,Hunermann-Conradi Syndrome,X-Linked Chondrodysplasia Punctata 2,X-Linked Dominant Chondrodysplasia Punctata,Chondrodysplasia Punctata 2, X Linked,Chondrodysplasia Punctata 2, X Linked Dominant,Conradi Hunermann Syndrome,Conradi Hünermann Happle Syndrome,Conradi Hünermann Syndrome,Conradi-Hunermann-Happle Syndromes,Conradi-Hünermann Syndromes,Conradi-Hünermann-Happle Syndromes,Hunermann Conradi Syndrome,X Linked Chondrodysplasia Punctata 2,X Linked Dominant Chondrodysplasia Punctata
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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