rhizomelic chondrodysplasia punctate type 4

Term ID

DOID:0081243

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. (2)

References

• OMIM:616154
• ORDO:438178

Ontology

Human Disease   ( DOID:0081243 )