12 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 involving errors in metabolic processes of building or degradation of molecules. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| 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:9351 | diabetes mellitus | A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. |
| DOID:0050524 | maturity-onset diabetes of the young | A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. |
| DOID:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:4194 | glucose metabolism disease | A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. |
| DOID:0111099 | maturity-onset diabetes of the young type 1 | A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050524 | DOID:0111099 |
| is_a | DOID:9351 | DOID:0111099 |
| is_a | DOID:0050739 | DOID:0111099 |
| is_a | DOID:4194 | DOID:0111099 |
| is_a | DOID:630 | DOID:0111099 |
| is_a | DOID:2978 | DOID:0111099 |
| is_a | DOID:655 | DOID:0111099 |
| is_a | DOID:0050177 | DOID:0111099 |
| is_a | DOID:0050736 | DOID:0111099 |
| is_a | DOID:4 | DOID:0111099 |
| is_a | DOID:0014667 | DOID:0111099 |
