11 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: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:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:2218 | blood platelet disease | A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. |
| DOID:1247 | blood coagulation disease | A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. |
| DOID:1588 | thrombocytopenia | A blood platelet disease that is characterized by low a platelet count in the blood. |
| DOID:0090102 | autosomal dominant isolated macrothrombocytopenia 1 | A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1588 | DOID:0090102 |
| is_a | DOID:0050736 | DOID:0090102 |
| is_a | DOID:0050739 | DOID:0090102 |
| is_a | DOID:630 | DOID:0090102 |
| is_a | DOID:4 | DOID:0090102 |
| is_a | DOID:7 | DOID:0090102 |
| is_a | DOID:2218 | DOID:0090102 |
| is_a | DOID:0050177 | DOID:0090102 |
| is_a | DOID:74 | DOID:0090102 |
| is_a | DOID:1247 | DOID:0090102 |
