15 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:0014667 | disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| DOID:2914 | immune system disease | A disease of anatomical entity that is located_in the immune system. |
| DOID:612 | primary immunodeficiency disease | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. |
| 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:5212 | congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| DOID:0050571 | congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. |
| DOID:0112002 | immunodeficiency 47 | A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050571 | DOID:0112002 |
| is_a | DOID:0080012 | DOID:0112002 |
| is_a | DOID:612 | DOID:0112002 |
| is_a | DOID:0080015 | DOID:0112002 |
| is_a | DOID:0050177 | DOID:0112002 |
| is_a | DOID:630 | DOID:0112002 |
| is_a | DOID:655 | DOID:0112002 |
| is_a | DOID:5212 | DOID:0112002 |
| is_a | DOID:7 | DOID:0112002 |
| is_a | DOID:0014667 | DOID:0112002 |
| is_a | DOID:0050735 | DOID:0112002 |
| is_a | DOID:4 | DOID:0112002 |
| is_a | DOID:2978 | DOID:0112002 |
| is_a | DOID:2914 | DOID:0112002 |
