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bn:04768495n
Noun Named Entity
ES
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
Relations
Sources
IS A
enfermedad rara
EN
rhizomelic chondrodysplasia punctata
trastorno del espectro de Zellweger
HEALTH SPECIALTY
genética médica

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