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: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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:2476 | hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| DOID:607 | paraplegia | |
| DOID:0060246 | MASA syndrome | A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2476 | DOID:0060246 |
| is_a | DOID:936 | DOID:0060246 |
| is_a | DOID:0080012 | DOID:0060246 |
| is_a | DOID:4 | DOID:0060246 |
| is_a | DOID:0050177 | DOID:0060246 |
| is_a | DOID:607 | DOID:0060246 |
| is_a | DOID:331 | DOID:0060246 |
| is_a | DOID:630 | DOID:0060246 |
| is_a | DOID:0050735 | DOID:0060246 |
| is_a | DOID:863 | DOID:0060246 |
| is_a | DOID:7 | DOID:0060246 |
