13 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:936 | brain disease | A central nervous system disease that is located_in the brain. |
| 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:0051015 | adult onset demyelinating leukodystrophy | A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. |
| DOID:10579 | leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| DOID:1443 | cerebral degeneration | A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. |
| DOID:0060785 | typical adult-onset autosomal dominant demyelinating leukodystrophy | An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0060785 |
| is_a | DOID:0051015 | DOID:0060785 |
| is_a | DOID:4 | DOID:0060785 |
| is_a | DOID:0050177 | DOID:0060785 |
| is_a | DOID:936 | DOID:0060785 |
| is_a | DOID:10579 | DOID:0060785 |
| is_a | DOID:0050739 | DOID:0060785 |
| is_a | DOID:1443 | DOID:0060785 |
| is_a | DOID:331 | DOID:0060785 |
| is_a | DOID:630 | DOID:0060785 |
| is_a | DOID:863 | DOID:0060785 |
| is_a | DOID:7 | DOID:0060785 |
