11 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: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:0081100 | spastic paraplegia with deafness | A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2476 | DOID:0081100 |
| is_a | DOID:0080012 | DOID:0081100 |
| is_a | DOID:863 | DOID:0081100 |
| is_a | DOID:331 | DOID:0081100 |
| is_a | DOID:7 | DOID:0081100 |
| is_a | DOID:630 | DOID:0081100 |
| is_a | DOID:0050735 | DOID:0081100 |
| is_a | DOID:4 | DOID:0081100 |
| is_a | DOID:607 | DOID:0081100 |
| is_a | DOID:0050177 | DOID:0081100 |
