BabelNet

bn:04768495n

Noun Named Entity

rhizomelic chondrodysplasia punctata type 1 Chondrodysplasia Punctata, Rhizomelic Form Chondrodystrophia Calcificans Punctata Pbd9 Peroxisome Biogenesis Disorder 9

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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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

IS A

rare disease

rhizomelic chondrodysplasia punctata

Zellweger spectrum disorder

HEALTH SPECIALTY

medical genetics

Wikidata

rhizomelic chondrodysplasia punctata type 1

Wikidata Alias

Chondrodysplasia Punctata, Rhizomelic Form, Chondrodystrophia Calcificans Punctata, Pbd9, Peroxisome Biogenesis Disorder 9, Rcdp1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1