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: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:1459 | hypothyroidism | A thyroid gland disease which involves an underproduction of thyroid hormone. |
| DOID:0050328 | congenital hypothyroidism | A hypothyroidism that is present at birth. |
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:50 | thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| DOID:0070128 | congenital nongoitrous hypothyroidism 6 | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0070128 |
| is_a | DOID:0050328 | DOID:0070128 |
| is_a | DOID:50 | DOID:0070128 |
| is_a | DOID:0050739 | DOID:0070128 |
| is_a | DOID:1459 | DOID:0070128 |
| is_a | DOID:0080015 | DOID:0070128 |
| is_a | DOID:0050177 | DOID:0070128 |
| is_a | DOID:7 | DOID:0070128 |
| is_a | DOID:630 | DOID:0070128 |
| is_a | DOID:4 | DOID:0070128 |
| is_a | DOID:28 | DOID:0070128 |
