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bn:03519713n
Noun Concept
ES
dysplesia punctata
EN
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi, that share the features of stippled epiphyses and skeletal changes. Wikipedia
Relations
Sources
IS A
enfermedad genética
síndrome
enfermedad monogénica
HAS KIND
EN
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
EN
rhizomelic chondrodysplasia punctata
EN
Conradi–Hünermann syndrome
EN
autosomal dominant chondrodysplasia punctata
HEALTH SPECIALTY
genética médica
SYMPTOMS
EN
stippled epiphyses
Wikidata
ES
dysplesia punctata

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