11 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: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:3211 | lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| 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:9455 | lipid storage disease | A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. |
| DOID:14503 | neuronal ceroid lipofuscinosis | |
| DOID:0110724 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0110724 |
| is_a | DOID:14503 | DOID:0110724 |
| is_a | DOID:4 | DOID:0110724 |
| is_a | DOID:655 | DOID:0110724 |
| is_a | DOID:0014667 | DOID:0110724 |
| is_a | DOID:630 | DOID:0110724 |
| is_a | DOID:9455 | DOID:0110724 |
| is_a | DOID:0050739 | DOID:0110724 |
| is_a | DOID:0050177 | DOID:0110724 |
| is_a | DOID:3211 | DOID:0110724 |
