WormBase Tree Display for DO_term: DOID:0090031
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| DOID:0090031 | Name | D-bifunctional protein deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:906 | |||
| DB_info | Database | OMIM | disease | 261515 | |
| Attribute_of | Gene_by_orthology | WBGene00000991 | |||
| WBGene00017123 |
