WormBase Tree Display for DO_term: DOID:0080130
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| DOID:0080130 | Name | mitochondrial DNA depletion syndrome 12a | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. | ||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0070329 | |||||
| DB_info | Database | OMIM | disease | 617184 | |
| Attribute_of | Gene_by_orthology | WBGene00006439 | |||
| WBGene00007057 | |||||
| WBGene00010485 | |||||
| WBGene00017770 | |||||
| WBGene00020140 |
