Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/500003 http://purl.bioontology.org/ontology/OMIM/500003
Preferred Name	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
Synonyms	INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL
prefLabel	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
Scope Statement	Genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the mitochondrial-encoded ATP synthase 6 gene (MTATP6, 516060.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU006772 http://purl.bioontology.org/ontology/OMIM/MTHU000657 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU006774 http://purl.bioontology.org/ontology/OMIM/MTHU006773 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU036949 See more See less
tui	T047
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	500003
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006682
cui	C1839022
OMIM Entry Type	3
OMIM MimType Value	pound

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