14 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:1287 | cardiovascular system disease | A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| DOID:114 | heart disease | A cardiovascular system disease that involves the heart. |
| DOID:0060118 | thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| 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:0060036 | intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| DOID:0050700 | cardiomyopathy | A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. |
| DOID:0080326 | familial hypertrophic cardiomyopathy | A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. |
| DOID:0061102 | hypertrophic cardiomyopathy 27 | A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. |
| DOID:11984 | hypertrophic cardiomyopathy | An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080326 | DOID:0061102 |
| is_a | DOID:0050737 | DOID:0061102 |
| is_a | DOID:7 | DOID:0061102 |
| is_a | DOID:0050700 | DOID:0061102 |
| is_a | DOID:0060036 | DOID:0061102 |
| is_a | DOID:4 | DOID:0061102 |
| is_a | DOID:0060118 | DOID:0061102 |
| is_a | DOID:11984 | DOID:0061102 |
| is_a | DOID:630 | DOID:0061102 |
| is_a | DOID:0050177 | DOID:0061102 |
| is_a | DOID:114 | DOID:0061102 |
| is_a | DOID:1287 | DOID:0061102 |
| is_a | DOID:0050739 | DOID:0061102 |
