Metadata | |
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ID | DOID:0080117 |
Name | mitochondrial complex III deficiency nuclear type 8 |
Definition | A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. http://omim.org/entry/615838?search=615838&highlight=615838 |
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Subclass Logical Relationships |
disease has basis in some structural_variant |