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Disease Ontology Browser
D-bifunctional protein deficiency (DOID:0090031)
Alliance: disease page
Alt IDs: OMIM:261515, ICD10CM:E71.3, ORDO:300
Definition: 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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/18/2019
MGI 6.14
The Jackson Laboratory