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Metadata
ID DOID:0090031
Name D-bifunctional protein deficiency
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.
https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency, https://www.omim.org/entry/261515
Xrefs

GARD:4539

ICD10CM:E71.3

OMIM:261515

ORDO:300

Parent Relationships

is_a peroxisomal disease

is_a genetic disease

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