10 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: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: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:9252 | amino acid metabolic disorder | An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
| DOID:9267 | urea cycle disorder | An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
| DOID:0112258 | N-acetylglutamate synthase deficiency | A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:9267 | DOID:0112258 |
| is_a | DOID:0050737 | DOID:0112258 |
| is_a | DOID:0050739 | DOID:0112258 |
| is_a | DOID:630 | DOID:0112258 |
| is_a | DOID:4 | DOID:0112258 |
| is_a | DOID:655 | DOID:0112258 |
| is_a | DOID:0014667 | DOID:0112258 |
| is_a | DOID:0050177 | DOID:0112258 |
| is_a | DOID:9252 | DOID:0112258 |
