12 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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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:2121 | ectodermal dysplasia | A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. |
| DOID:3389 | Papillon-Lefevre disease | An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1091 | DOID:3389 |
| is_a | DOID:0050737 | DOID:3389 |
| is_a | DOID:2121 | DOID:3389 |
| is_a | DOID:0050177 | DOID:3389 |
| is_a | DOID:630 | DOID:3389 |
| is_a | DOID:225 | DOID:3389 |
| is_a | DOID:0050739 | DOID:3389 |
| is_a | DOID:4 | DOID:3389 |
| is_a | DOID:7 | DOID:3389 |
| is_a | DOID:403 | DOID:3389 |
| is_a | DOID:77 | DOID:3389 |
