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Echinobase
Summary Literature (0)
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 dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.

Synonyms:

Echinobase Genes :


MIM:
MIM:261515 - d-bifunctional protein deficiency

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): peroxisomal disease (is_a)