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bn:04768495n
Noun Named Entity
JA
No term available
EN
A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. Wikidata
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IS A
希少疾患
EN
rhizomelic chondrodysplasia punctata
EN
Zellweger spectrum disorder
HEALTH SPECIALTY
遺伝医学

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