WormBase Tree Display for DO_term: DOID:0080133
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| DOID:0080133 | Name | multiple mitochondrial dysfunctions syndrome 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. | ||||
| Synonym | Exact | NFU1 deficiency | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0070330 | |||||
| DB_info | Database | OMIM | disease | 605711 | |
| Disease_model_annotation | WBDOannot00001084 | ||||
| WBDOannot00001085 | |||||
| WBDOannot00001086 | |||||
| WBDOannot00001087 | |||||
| WBDOannot00001088 | |||||
| WBDOannot00001089 | |||||
| Attribute_of | Gene_by_biology | WBGene00003064 | |||
| Gene_by_orthology | WBGene00003064 | ||||
| Disease_model_variation | WBVar02157210 | ||||
| WBVar02157211 | |||||
| WBVar02157212 | |||||
| WBVar02157213 | |||||
| WBVar02157214 | |||||
| WBVar02157215 |
