9 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: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:1927 | sphingolipidosis | A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. |
| 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:14504 | Niemann-Pick disease | A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. |
| DOID:0070113 | Niemann-Pick disease type C1 | A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:14504 | DOID:0070113 |
| is_a | DOID:0014667 | DOID:0070113 |
| is_a | DOID:4 | DOID:0070113 |
| is_a | DOID:630 | DOID:0070113 |
| is_a | DOID:9455 | DOID:0070113 |
| is_a | DOID:1927 | DOID:0070113 |
| is_a | DOID:3211 | DOID:0070113 |
| is_a | DOID:655 | DOID:0070113 |
