"D-bifunctional protein deficiency"^^ . . . . _:vb50942122 . _:vb50942122 . "OMIM:261515"^^ . "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."^^ . "ICD10CM:E71.3"^^ . "DOID:0090031"^^ . "ORDO:300"^^ . "GARD:4539"^^ . _:vb50942122 . _:vb50942122 . "disease_ontology"^^ . _:vb50942122 .