Search Ontology:
Human Disease

NARP syndrome

Term ID
DOID:0111273
Synonyms
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
  • neuropathy, ataxia and retinitis pigmentosa
  • Neuropathy-ataxia-retinitis pigmentosa syndrome
Definition
A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/2137962
References
  • GARD:262
  • MEDDRA:10062940
  • MESH:C537396
  • MIM:551500
  • ORDO:644
  • SNOMEDCT_US_2023_03_01:237984008
  • UMLS_CUI:C1328349
Ontology
Human Disease   ( DOID:0111273 )
Relationships
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Genes Involved
Zebrafish Models