Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600165 http://purl.bioontology.org/ontology/OMIM/600165
Preferred Name	NANOPHTHALMOS 1
Synonyms	MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA NANOPHTHALMIA 1 NNO1 NANOPHTHALMOS, AUTOSOMAL DOMINANT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA NANOPHTHALMIA 1 NNO1 NANOPHTHALMOS, AUTOSOMAL DOMINANT
prefLabel	NANOPHTHALMOS 1
Gene Symbol	NNO1 C11orf9 KIAA0954 CUGS MMERV MYRF See more See less
Scope Statement	Caused by mutation in the myelin regulatory factor gene (MYRF, 608329.0007) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU023516 http://purl.bioontology.org/ontology/OMIM/MTHU079489 http://purl.bioontology.org/ontology/OMIM/MTHU079487 http://purl.bioontology.org/ontology/OMIM/MTHU068820 http://purl.bioontology.org/ontology/OMIM/MTHU002370 http://purl.bioontology.org/ontology/OMIM/MTHU079486 http://purl.bioontology.org/ontology/OMIM/MTHU079488 http://purl.bioontology.org/ontology/OMIM/MTHU030388 See more See less
tui	T047
Gene Locus	11q12.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600165
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1838502
OMIM Entry Type	3
OMIM MimType Value	pound

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