WormBase Tree Display for DO_term: DOID:0112153
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| DOID:0112153 | Name | hypomyelinating leukodystrophy 20 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. | ||||
| Synonym | Exact | HLD20 | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0060786 | |||||
| DB_info | Database | OMIM | disease | 619071 | |
| Attribute_of | Gene_by_orthology | WBGene00017811 |
