Multiple Mitochondrial Dysfunctions Syndrome 3
Disease ID: disease_node_16813
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| Dbxref | MIM:615330, ORDO:363424 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070330 |
| Data Source | DOID |
| Synonyms | IBA57 deficiency |
| Doid Label | multiple mitochondrial dysfunctions syndrome 3 |
| Doid Description | A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16813 |
| Doid Id | DOID_0080135 |
| Label | Multiple Mitochondrial Dysfunctions Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)