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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0111442 | optic atrophy 9 | An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:5723 | DOID:0111442 |
| is_a | DOID:0050737 | DOID:0111442 |
| is_a | DOID:870 | DOID:0111442 |
| is_a | DOID:574 | DOID:0111442 |
| is_a | DOID:0050177 | DOID:0111442 |
| is_a | DOID:1891 | DOID:0111442 |
| is_a | DOID:630 | DOID:0111442 |
| is_a | DOID:7 | DOID:0111442 |
| is_a | DOID:5656 | DOID:0111442 |
| is_a | DOID:863 | DOID:0111442 |
| is_a | DOID:0050739 | DOID:0111442 |
| is_a | DOID:4 | DOID:0111442 |
