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Metadata
ID DOID:0111273
Name NARP 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
Xrefs

GARD:262

MEDDRA:10062940

MESH:C537396

OMIM:551500

ORDO:644

SNOMEDCT_US_2023_03_01:237984008

UMLS_CUI:C1328349

Subsets

DO_rare_slim

Synonyms

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome [EXACT]

neuropathy, ataxia and retinitis pigmentosa [EXACT]

Neuropathy-ataxia-retinitis pigmentosa syndrome [EXACT]

Parent Relationships

is_a mitochondrial metabolism disease

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