Term Name:	rhizomelic chondrodysplasia punctate type 4
Synonyms:
Definition:	A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
Ontology:	Human Disease [DOID:0081243]   ( DOID:0081243 )