Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/551500 http://purl.bioontology.org/ontology/OMIM/551500
Preferred Name	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
Synonyms	NARP SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NARP SYNDROME
prefLabel	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
Scope Statement	Caused by mutations in the mitochondrial ATP synthase 6 gene (MTATP6, 516060.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001836 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU006683 http://purl.bioontology.org/ontology/OMIM/MTHU006685 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU006680 http://purl.bioontology.org/ontology/OMIM/MTHU006684 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU006686 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU006681 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	551500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006682
cui	C1328349
OMIM Entry Type	3
OMIM MimType Value	pound

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