Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	OPTIC NERVE HYPOPLASIA, BILATERAL
Synonyms	OPTIC NERVE APLASIA, BILATERAL
ID	http://purl.bioontology.org/ontology/OMIM/165550
altLabel	OPTIC NERVE APLASIA, BILATERAL
cui	C1833798 C1833797
Gene Locus	11p13
Gene Symbol	FVH1 MGDA AN2 ASGD5 PAX6
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	165550
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OPTIC NERVE HYPOPLASIA, BILATERAL
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563493	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C563492	MESH	CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.033	ICD10CM	CUI
http://purl.bioontology.org/ontology/MESH/C563492	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563492	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/H47.033	ICD10CM	LOOM