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Ontology Browser

Term:
mitochondrial complex III deficiency nuclear type 1 (DOID:0080111)
Annotations: Rat: (11) Mouse: (11) Human: (11) Chinchilla: (11) Bonobo: (10) Dog: (11) Squirrel: (11) Pig: (11)
Parent Terms Term With Siblings Child Terms
mitochondrial complex III deficiency nuclear type 1  
A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)
Mitochondrial Complex III Deficiency Nuclear Type 10  
mitochondrial complex III deficiency nuclear type 2  
mitochondrial complex III deficiency nuclear type 3  
mitochondrial complex III deficiency nuclear type 4  
mitochondrial complex III deficiency nuclear type 5  
mitochondrial complex III deficiency nuclear type 6  
mitochondrial complex III deficiency nuclear type 7  
mitochondrial complex III deficiency nuclear type 8  
mitochondrial complex III deficiency nuclear type 9  

Synonyms
Exact Synonyms: MC3DN1
Broad Synonyms: BCS1L-related disorder ;   DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III
Primary IDs: MESH:C565128
Alternate IDs: OMIM:124000
Definition Sources: http://omim.org/entry/124000?search=124000&highlight=124000 "DO" "DO"

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