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:574 | peripheral nervous system disease | A nervous system disease that affects the peripheral 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:870 | neuropathy | A nervous system disease that is located_in nerves or nerve cells. |
| DOID:5656 | cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| DOID:1891 | optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| DOID:5723 | optic atrophy | An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. |
| DOID:0111438 | optic atrophy 5 | An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:5723 | DOID:0111438 |
| is_a | DOID:0050736 | DOID:0111438 |
| is_a | DOID:4 | DOID:0111438 |
| is_a | DOID:7 | DOID:0111438 |
| is_a | DOID:1891 | DOID:0111438 |
| is_a | DOID:870 | DOID:0111438 |
| is_a | DOID:574 | DOID:0111438 |
| is_a | DOID:630 | DOID:0111438 |
| is_a | DOID:0050177 | DOID:0111438 |
| is_a | DOID:863 | DOID:0111438 |
| is_a | DOID:0050739 | DOID:0111438 |
| is_a | DOID:5656 | DOID:0111438 |
