13 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:0014667 | disease of metabolism | A disease that involves errors in metabolic processes of building or degradation of molecules. |
| DOID:0060158 | acquired metabolic disease | A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. |
| DOID:0050032 | mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| 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:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
| DOID:0060699 | familial hypocalciuric hypercalcemia | A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. |
| DOID:12678 | hypercalcemia | |
| DOID:10575 | calcium metabolism disease | |
| DOID:0060702 | familial hypocalciuric hypercalcemia 3 | A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060699 | DOID:0060702 |
| is_a | DOID:0050177 | DOID:0060702 |
| is_a | DOID:630 | DOID:0060702 |
| is_a | DOID:655 | DOID:0060702 |
| is_a | DOID:0050739 | DOID:0060702 |
| is_a | DOID:0050032 | DOID:0060702 |
| is_a | DOID:10575 | DOID:0060702 |
| is_a | DOID:0060158 | DOID:0060702 |
| is_a | DOID:0050736 | DOID:0060702 |
| is_a | DOID:0014667 | DOID:0060702 |
| is_a | DOID:4 | DOID:0060702 |
| is_a | DOID:12678 | DOID:0060702 |
