10 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: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: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: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:0111048 | platelet-type bleeding disorder 19 | A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2218 | DOID:0111048 |
| is_a | DOID:0050737 | DOID:0111048 |
| is_a | DOID:1247 | DOID:0111048 |
| is_a | DOID:0050739 | DOID:0111048 |
| is_a | DOID:630 | DOID:0111048 |
| is_a | DOID:7 | DOID:0111048 |
| is_a | DOID:0050177 | DOID:0111048 |
| is_a | DOID:4 | DOID:0111048 |
| is_a | DOID:74 | DOID:0111048 |
