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:77 | gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| 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:403 | mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| DOID:1091 | tooth disease | A mouth disease located_in the teeth. |
| DOID:2187 | amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| DOID:693 | dental enamel hypoplasia | |
| DOID:214 | teeth hard tissue disease | |
| DOID:0111721 | amelogenesis imperfecta type 3 | An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. |
| DOID:0110055 | amelogenesis imperfecta type 3A | An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111721 | DOID:0110055 |
| is_a | DOID:0050736 | DOID:0110055 |
| is_a | DOID:0050739 | DOID:0110055 |
| is_a | DOID:1091 | DOID:0110055 |
| is_a | DOID:0050177 | DOID:0110055 |
| is_a | DOID:403 | DOID:0110055 |
| is_a | DOID:4 | DOID:0110055 |
| is_a | DOID:214 | DOID:0110055 |
| is_a | DOID:7 | DOID:0110055 |
| is_a | DOID:77 | DOID:0110055 |
| is_a | DOID:630 | DOID:0110055 |
| is_a | DOID:2187 | DOID:0110055 |
| is_a | DOID:693 | DOID:0110055 |
