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Summary Literature (0)
DOID:0081243 - rhizomelic chondrodysplasia punctate type 4

Disease Ontology 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.

Synonyms:

Xenbase Genes : far1


MIM:
MIM:616154 - PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): rhizomelic chondrodysplasia punctata (is_a)