12 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| 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:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| 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:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |
| DOID:10652 | Alzheimer's disease | A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| DOID:680 | tauopathy | A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. |
| DOID:0110040 | Alzheimer's disease 4 | An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0110040 |
| is_a | DOID:10652 | DOID:0110040 |
| is_a | DOID:630 | DOID:0110040 |
| is_a | DOID:0050177 | DOID:0110040 |
| is_a | DOID:331 | DOID:0110040 |
| is_a | DOID:680 | DOID:0110040 |
| is_a | DOID:0050739 | DOID:0110040 |
| is_a | DOID:4 | DOID:0110040 |
| is_a | DOID:1289 | DOID:0110040 |
| is_a | DOID:7 | DOID:0110040 |
| is_a | DOID:863 | DOID:0110040 |
