Term Name:	rhizomelic chondrodysplasia punctata type 5
Synonyms:	RCDP5
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.
Ontology:	Human Disease [DOID:0110854]   ( DOID:0110854 )