7 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:0014667 | disease of metabolism | A disease that involves errors in metabolic processes of building or degradation of molecules. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
| DOID:896 | metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| DOID:0080535 | hypermanganesemia with dystonia | A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. |
| DOID:0080536 | hypermanganesemia with dystonia 1 | A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080535 | DOID:0080536 |
| is_a | DOID:896 | DOID:0080536 |
| is_a | DOID:655 | DOID:0080536 |
| is_a | DOID:630 | DOID:0080536 |
| is_a | DOID:0014667 | DOID:0080536 |
| is_a | DOID:4 | DOID:0080536 |
