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: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: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: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:0111722 | amelogenesis imperfecta type 3C | An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111721 | DOID:0111722 |
| is_a | DOID:0050737 | DOID:0111722 |
| is_a | DOID:2187 | DOID:0111722 |
| is_a | DOID:7 | DOID:0111722 |
| is_a | DOID:693 | DOID:0111722 |
| is_a | DOID:4 | DOID:0111722 |
| is_a | DOID:630 | DOID:0111722 |
| is_a | DOID:214 | DOID:0111722 |
| is_a | DOID:0050739 | DOID:0111722 |
| is_a | DOID:403 | DOID:0111722 |
| is_a | DOID:77 | DOID:0111722 |
| is_a | DOID:1091 | DOID:0111722 |
| is_a | DOID:0050177 | DOID:0111722 |
