D-Bifunctional Protein Deficiency
Disease ID: disease_node_17502
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| Dbxref | GARD:4539, ICD10CM:E71.3, MIM:261515, ORDO:300 |
|---|---|
| Subclassof | DOID_906 |
| Data Source | DOID |
| Doid Label | D-bifunctional protein deficiency |
| Doid Description | 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. |
| Disease Node Id | disease_node_17502 |
| Doid Id | DOID_0090031 |
| Disease Has Basis In | SO_0001537 |
| Label | D-Bifunctional Protein Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease)