Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0081243 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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