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 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: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:0060159 | organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| DOID:0111263 | combined malonic and methylmalonic acidemia | An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060159 | DOID:0111263 |
| is_a | DOID:0050737 | DOID:0111263 |
| is_a | DOID:630 | DOID:0111263 |
| is_a | DOID:9252 | DOID:0111263 |
| is_a | DOID:0050739 | DOID:0111263 |
| is_a | DOID:655 | DOID:0111263 |
| is_a | DOID:0050177 | DOID:0111263 |
| is_a | DOID:4 | DOID:0111263 |
| is_a | DOID:0014667 | DOID:0111263 |
