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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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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The Jackson Laboratory