Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/164100 http://purl.bioontology.org/ontology/OMIM/164100
Preferred Name	NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT
Synonyms	NYS2 NYSTAGMUS, CONGENITAL MOTOR, 2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NYS2 NYSTAGMUS, CONGENITAL MOTOR, 2
prefLabel	NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT
Gene Symbol	NYS2 NYSA
Scope Statement	Onset in infancy [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU026465 http://purl.bioontology.org/ontology/OMIM/MTHU001599 http://purl.bioontology.org/ontology/OMIM/MTHU026467 http://purl.bioontology.org/ontology/OMIM/MTHU026466 http://purl.bioontology.org/ontology/OMIM/MTHU022619 See more See less
tui	T047
Gene Locus	6p12
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	164100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1834079
OMIM Entry Type	5
OMIM MimType Value	perc

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