13 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 involves errors in metabolic processes of building or degradation of molecules. |
| DOID:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| 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:0080000 | muscular disease | A musculoskeletal system disease that affects the muscles. |
| DOID:0050710 | 3-methylcrotonyl-CoA carboxylase deficiency | An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. |
| DOID:0080579 | 3-methylcrotonyl-CoA carboxylase 1 deficiency | A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050710 | DOID:0080579 |
| is_a | DOID:0050739 | DOID:0080579 |
| is_a | DOID:9252 | DOID:0080579 |
| is_a | DOID:0050177 | DOID:0080579 |
| is_a | DOID:655 | DOID:0080579 |
| is_a | DOID:4 | DOID:0080579 |
| is_a | DOID:0014667 | DOID:0080579 |
| is_a | DOID:0080000 | DOID:0080579 |
| is_a | DOID:17 | DOID:0080579 |
| is_a | DOID:7 | DOID:0080579 |
| is_a | DOID:0050737 | DOID:0080579 |
| is_a | DOID:630 | DOID:0080579 |
