FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term rhizomelic chondrodysplasia punctate type 4 ID (Ontology) DOID:0081243 (Human Disease)
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.
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 rhizomelic chondrodysplasia punctate type 4      11
 for disease ribbon | rhizomelic chondrodysplasia punctate type 4      11
 model of | rhizomelic chondrodysplasia punctate type 4      11
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autosomal recessive disease__
chondrodysplasia punctata____|
                             rhizomelic chondrodysplasia punctata
                              |__rhizomelic chondrodysplasia punctate type 4  11 rec.
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MIM:616154
ORDO:438178