DISEASES

Disease-gene associations mined from literature

Human genes for rhizomelic chondrodysplasia punctata type 5

Rhizomelic chondrodysplasia punctata type 5 [DOID:0110854]

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:  rhizomelic chondrodysplasia punctata type 5,  DOID:0110854,  Rcdp5