9 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:5295 | intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| 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:0111667 | enterokinase deficiency | An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0111667 |
| is_a | DOID:5295 | DOID:0111667 |
| is_a | DOID:7 | DOID:0111667 |
| is_a | DOID:4 | DOID:0111667 |
| is_a | DOID:630 | DOID:0111667 |
| is_a | DOID:0050739 | DOID:0111667 |
| is_a | DOID:77 | DOID:0111667 |
| is_a | DOID:0050177 | DOID:0111667 |
