14 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:10124 | corneal disease | An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. |
| 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:5614 | eye disease | An eye and adnexa disease that is located_in the eye. |
| DOID:0050155 | sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:2566 | corneal dystrophy | |
| DOID:0060443 | corneal endothelial dystrophy | A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. |
| DOID:0060649 | congenital hereditary endothelial dystrophy of cornea | A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060443 | DOID:0060649 |
| is_a | DOID:0080015 | DOID:0060649 |
| is_a | DOID:0050737 | DOID:0060649 |
| is_a | DOID:2566 | DOID:0060649 |
| is_a | DOID:0050177 | DOID:0060649 |
| is_a | DOID:0050155 | DOID:0060649 |
| is_a | DOID:5614 | DOID:0060649 |
| is_a | DOID:630 | DOID:0060649 |
| is_a | DOID:0050739 | DOID:0060649 |
| is_a | DOID:7 | DOID:0060649 |
| is_a | DOID:863 | DOID:0060649 |
| is_a | DOID:4 | DOID:0060649 |
| is_a | DOID:10124 | DOID:0060649 |
