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: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: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:0110720 | neuronal ceroid lipofuscinosis 4 | A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:14503 | DOID:0110720 |
| is_a | DOID:0050736 | DOID:0110720 |
| is_a | DOID:3211 | DOID:0110720 |
| is_a | DOID:0050739 | DOID:0110720 |
| is_a | DOID:4 | DOID:0110720 |
| is_a | DOID:655 | DOID:0110720 |
| is_a | DOID:0014667 | DOID:0110720 |
| is_a | DOID:9455 | DOID:0110720 |
| is_a | DOID:630 | DOID:0110720 |
| is_a | DOID:0050177 | DOID:0110720 |
