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Disease Ontology Browser
rhizomelic chondrodysplasia punctata type 1 (DOID:0110851)
Alliance: disease page
Synonyms: Pbd9; Peroxisome Biogenesis Disorder 9; Rcdp1
Alt IDs: OMIM:215100, ICD10CM:Q77.3, ORDO:309789
Definition: 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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.14
The Jackson Laboratory