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: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:0060786 | hypomyelinating leukodystrophy | A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. |
| DOID:0060798 | hypomyelinating leukodystrophy 6 | A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060786 | DOID:0060798 |
| is_a | DOID:0050736 | DOID:0060798 |
| is_a | DOID:863 | DOID:0060798 |
| is_a | DOID:0050177 | DOID:0060798 |
| is_a | DOID:936 | DOID:0060798 |
| is_a | DOID:0050739 | DOID:0060798 |
| is_a | DOID:1443 | DOID:0060798 |
| is_a | DOID:331 | DOID:0060798 |
| is_a | DOID:7 | DOID:0060798 |
| is_a | DOID:10579 | DOID:0060798 |
| is_a | DOID:630 | DOID:0060798 |
| is_a | DOID:4 | DOID:0060798 |
