Term Name:	rhizomelic chondrodysplasia punctata type 1
Synonyms:	PBD9, Peroxisome Biogenesis Disorder 9, RCDP1
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.
Ontology:	Human Disease [DOID:0110851]   ( DOID:0110851 )