| 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 dying 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a peroxisomal disease |
| Subclass Logical Relationships |
disease has basis in some structural_variant |