WormMine: DiseaseOntology DOID:0060537 mitochondrial complex II deficiency Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

1 Ontology

• Name: Disease Ontology

6 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:700	mitochondrial metabolism disease	An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
DOID:0060537	mitochondrial complex II deficiency	A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

5 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:700	DOID:0060537
is_a	DOID:630	DOID:0060537
is_a	DOID:655	DOID:0060537
is_a	DOID:0014667	DOID:0060537
is_a	DOID:4	DOID:0060537

4 Synonyms

• Name: isolated mitochondrial respiratory chain complex II deficiency
• Type: synonym

• Name: isolated succinate-coenzyme Q reductase deficiency
• Type: synonym

• Name: isolated succinate-CoQ reductase deficiency
• Type: synonym

• Name: isolated succinate-ubiquinone reductase deficiency
• Type: synonym