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Summary Literature (0)
DOID:0110854 - rhizomelic chondrodysplasia punctata type 5

Disease Ontology 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.

Synonyms: Rcdp5, RCDP5

Xenbase Genes : pex5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): rhizomelic chondrodysplasia punctata (is_a)