13 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:229 | female reproductive system disease | A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. |
| DOID:15 | reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| 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: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:2277 | gonadal disease | An endocrine system disease that is located_in the gonads. |
| DOID:1100 | ovarian disease | A female reproductive system disease that is located_in the ovary. |
| DOID:5426 | primary ovarian insufficiency | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| DOID:0080866 | primary ovarian insufficiency 9 | A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:5426 | DOID:0080866 |
| is_a | DOID:0050737 | DOID:0080866 |
| is_a | DOID:1100 | DOID:0080866 |
| is_a | DOID:2277 | DOID:0080866 |
| is_a | DOID:0050739 | DOID:0080866 |
| is_a | DOID:229 | DOID:0080866 |
| is_a | DOID:0050177 | DOID:0080866 |
| is_a | DOID:7 | DOID:0080866 |
| is_a | DOID:15 | DOID:0080866 |
| is_a | DOID:630 | DOID:0080866 |
| is_a | DOID:28 | DOID:0080866 |
| is_a | DOID:4 | DOID:0080866 |
