WormBase Tree Display for DO_term: DOID:0080296
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DOID:0080296 | Name | hypomyelinating leukodystrophy 14 | |||
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Status | Valid | ||||
Definition | A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. | ||||
Parent | Is_a | DOID:0050737 | |||
DOID:0060786 | |||||
DB_info | Database | OMIM | disease | 617899 | |
Attribute_of | Gene_by_orthology | WBGene00044324 |