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DOID:0090031 - D-bifunctional protein deficiency
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
acaa1,
ehhadh,
hsd17b4
| MONDO:0009855 - d-bifunctional protein deficiency |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a),
peroxisomal disease (is_a)