13 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: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: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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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: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:11717 | neonatal diabetes mellitus | A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. |
| DOID:0060638 | neonatal diabetes mellitus with congenital hypothyroidism | A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0060638 |
| is_a | DOID:11717 | DOID:0060638 |
| is_a | DOID:0080015 | DOID:0060638 |
| is_a | DOID:0050177 | DOID:0060638 |
| is_a | DOID:630 | DOID:0060638 |
| is_a | DOID:0050739 | DOID:0060638 |
| is_a | DOID:655 | DOID:0060638 |
| is_a | DOID:4 | DOID:0060638 |
| is_a | DOID:0014667 | DOID:0060638 |
| is_a | DOID:2978 | DOID:0060638 |
| is_a | DOID:9351 | DOID:0060638 |
| is_a | DOID:4194 | DOID:0060638 |
