Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 21

Term ID
DOID:0111465
Synonyms
  • COXPD21
Definition
A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. https://www.ncbi.nlm.nih.gov/pubmed/24827421
References
Ontology
Human Disease   ( DOID:0111465 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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