rhizomelic chondrodysplasia punctata type 5 Disease Ontology Browser

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Disease Ontology Browser

rhizomelic chondrodysplasia punctata type 5 (DOID:0110854)
Alliance: disease page
Synonyms: RCDP5
Alt IDs: OMIM:616716, ORDO:468717
Definition: A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.

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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