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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory