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:28 | endocrine system disease | A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| 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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:11199 | hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| DOID:11201 | parathyroid gland disease | An endocrine system disease that is located_in the parathyroid gland. |
| DOID:0111388 | X-linked hypoparathyroidism | A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:11199 | DOID:0111388 |
| is_a | DOID:0050735 | DOID:0111388 |
| is_a | DOID:28 | DOID:0111388 |
| is_a | DOID:7 | DOID:0111388 |
| is_a | DOID:630 | DOID:0111388 |
| is_a | DOID:0050177 | DOID:0111388 |
| is_a | DOID:4 | DOID:0111388 |
| is_a | DOID:11201 | DOID:0111388 |
