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: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: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: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:0112183 | familial thyroid dyshormonogenesis | A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. |
| DOID:0112185 | thyroid dyshormonogenesis 1 | A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112183 | DOID:0112185 |
| is_a | DOID:0050737 | DOID:0112185 |
| is_a | DOID:0050177 | DOID:0112185 |
| is_a | DOID:0080015 | DOID:0112185 |
| is_a | DOID:1459 | DOID:0112185 |
| is_a | DOID:0050739 | DOID:0112185 |
| is_a | DOID:50 | DOID:0112185 |
| is_a | DOID:7 | DOID:0112185 |
| is_a | DOID:0050328 | DOID:0112185 |
| is_a | DOID:4 | DOID:0112185 |
| is_a | DOID:28 | DOID:0112185 |
| is_a | DOID:630 | DOID:0112185 |
