FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term D-bifunctional protein deficiency ID (Ontology) DOID:0090031 (Human Disease)
Definition A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
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 Genes
 D-bifunctional protein deficiency       1
 for disease ribbon | D-bifunctional protein deficiency       1
 model of | D-bifunctional protein deficiency       1
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  inherited metabolic disorder
   |__peroxisomal disease
       |__D-bifunctional protein deficiency  1 rec.
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Is a peroxisomal disease
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GARD:4539
ICD10CM:E71.3
MIM:261515
ORDO:300