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: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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:0060388 | chromosomal deletion syndrome | A chromosomal disease that has_material_basis_in partial deletion of chromosomes. |
| DOID:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:2277 | gonadal disease | An endocrine system disease that is located_in the gonads. |
| DOID:1923 | disorder of sexual development | A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. |
| DOID:14447 | gonadal dysgenesis | A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| DOID:14448 | 46,XY sex reversal | A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. |
| DOID:0111775 | 46,XY sex reversal 10 | A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0111775 |
| is_a | DOID:14448 | DOID:0111775 |
| is_a | DOID:0060388 | DOID:0111775 |
| is_a | DOID:2277 | DOID:0111775 |
| is_a | DOID:0080014 | DOID:0111775 |
| is_a | DOID:28 | DOID:0111775 |
| is_a | DOID:0050739 | DOID:0111775 |
| is_a | DOID:14447 | DOID:0111775 |
| is_a | DOID:4 | DOID:0111775 |
| is_a | DOID:7 | DOID:0111775 |
| is_a | DOID:630 | DOID:0111775 |
| is_a | DOID:0050177 | DOID:0111775 |
| is_a | DOID:1923 | DOID:0111775 |
