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 involves 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: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:9252 | amino acid metabolic disorder | An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
| DOID:0060159 | organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| DOID:14749 | methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| DOID:0111814 | methylmalonic acidemia and homocysteinemia cblX type | A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0111814 |
| is_a | DOID:14749 | DOID:0111814 |
| is_a | DOID:655 | DOID:0111814 |
| is_a | DOID:4 | DOID:0111814 |
| is_a | DOID:0014667 | DOID:0111814 |
| is_a | DOID:0050177 | DOID:0111814 |
| is_a | DOID:0060159 | DOID:0111814 |
| is_a | DOID:9252 | DOID:0111814 |
| is_a | DOID:0050735 | DOID:0111814 |
| is_a | DOID:630 | DOID:0111814 |
