WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060358 multiple acyl-CoA dehydrogenase deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  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.

1 Ontology

Name
Disease Ontology

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

6 Synonyms

Name Type
electron transfer flavoprotein deficiency synonym
electron transfer flavoprotein ubiquinone oxidoreductase deficiency synonym
glutaric acidemia type 2 synonym
glutaric aciduria type 2 synonym
MAD deficiency synonym
MADD synonym