Multiple Mitochondrial Dysfunctions Syndrome 1
Disease ID: disease_node_16815
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| Dbxref | GARD:12632, MIM:605711, ORDO:401869 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070330 |
| Data Source | DOID |
| Synonyms | NFU1 deficiency |
| Doid Label | multiple mitochondrial dysfunctions syndrome 1 |
| Doid Description | 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. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16815 |
| Doid Id | DOID_0080133 |
| Label | Multiple Mitochondrial Dysfunctions Syndrome 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)