Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

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
notation	500003
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]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006682
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
tui	T047
cui	C1839022

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