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: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:0060404 | chromosome 17q12 deletion syndrome | A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0060404 |
| is_a | DOID:0060388 | DOID:0060404 |
| is_a | DOID:630 | DOID:0060404 |
| is_a | DOID:0050177 | DOID:0060404 |
| is_a | DOID:0050739 | DOID:0060404 |
| is_a | DOID:0080014 | DOID:0060404 |
| is_a | DOID:4 | DOID:0060404 |
