5 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: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:0060358 | multiple acyl-CoA dehydrogenase deficiency | An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. |
4 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:655 | DOID:0060358 |
is_a | DOID:630 | DOID:0060358 |
is_a | DOID:0014667 | DOID:0060358 |
is_a | DOID:4 | DOID:0060358 |