11 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 involving errors in metabolic processes of building or degradation of molecules. |
| 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:3146 | lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| DOID:0080503 | multiple congenital anomalies-hypotonia-seizures syndrome | A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. |
| DOID:0080139 | multiple congenital anomalies-hypotonia-seizures syndrome 2 | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0080139 |
| is_a | DOID:0080503 | DOID:0080139 |
| is_a | DOID:0080015 | DOID:0080139 |
| is_a | DOID:0050177 | DOID:0080139 |
| is_a | DOID:4 | DOID:0080139 |
| is_a | DOID:655 | DOID:0080139 |
| is_a | DOID:0014667 | DOID:0080139 |
| is_a | DOID:0050735 | DOID:0080139 |
| is_a | DOID:3146 | DOID:0080139 |
| is_a | DOID:630 | DOID:0080139 |
