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: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: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:2566 | corneal dystrophy | |
| DOID:0060441 | epithelial-stromal TGFBI dystrophy | A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. |
| DOID:0060455 | Thiel-Behnke corneal dystrophy | An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060441 | DOID:0060455 |
| is_a | DOID:0050736 | DOID:0060455 |
| is_a | DOID:4 | DOID:0060455 |
| is_a | DOID:0050177 | DOID:0060455 |
| is_a | DOID:0050155 | DOID:0060455 |
| is_a | DOID:10124 | DOID:0060455 |
| is_a | DOID:2566 | DOID:0060455 |
| is_a | DOID:5614 | DOID:0060455 |
| is_a | DOID:0050739 | DOID:0060455 |
| is_a | DOID:630 | DOID:0060455 |
| is_a | DOID:863 | DOID:0060455 |
| is_a | DOID:7 | DOID:0060455 |
