8 Parents
| Identifier | Name | Description |
|---|---|---|
| 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: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:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:0060429 | chromosomal duplication syndrome | A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. |
| DOID:0070470 | chromosome 1p36.33 duplication syndrome | A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0070470 |
| is_a | DOID:0060429 | DOID:0070470 |
| is_a | DOID:0080014 | DOID:0070470 |
| is_a | DOID:0050739 | DOID:0070470 |
| is_a | DOID:4 | DOID:0070470 |
| is_a | DOID:630 | DOID:0070470 |
| is_a | DOID:0050177 | DOID:0070470 |
