WormBase Tree Display for DO_term: DOID:0070398
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| DOID:0070398 | Name | hypomyelinating leukodystrophy 15 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. | ||||
| Synonym | Exact | HLD15 | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0060786 | |||||
| DB_info | Database | OMIM | disease | 617951 | |
| Attribute_of | Gene_by_orthology | WBGene00001337 | |||
| WBGene00004189 |
