Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3
Disease ID: disease_node_18041
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| Dbxref | MIM:500011 |
|---|---|
| Subclassof | DOID_0080099 |
| Data Source | DOID |
| Synonyms | MLASA3 |
| Doid Label | myopathy, lactic acidosis, and sideroblastic anemia 3 |
| Doid Description | A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. |
| Disease Node Id | disease_node_18041 |
| Doid Id | DOID_0111184 |
| Label | Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Myopathy, Lactic Acidosis, And Sideroblastic Anemia(ID:disease_node_18038) (Disease)