Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618513 http://purl.bioontology.org/ontology/OMIM/618513
Preferred Name	LEBER CONGENITAL AMAUROSIS 19
Synonyms	LCA19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LCA19
prefLabel	LEBER CONGENITAL AMAUROSIS 19
Gene Symbol	USP45 LCA19
notation	618513
Scope Statement	Caused by mutation in the ubiquitin-specific protease-45 gene (USP45, 618439.0001) [MOLECULAR BASIS] Onset of symptoms in early childhood [MISCELLANEOUS] Based on report of 1 patient (last curated July 2019) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
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/MTHU013743 http://purl.bioontology.org/ontology/OMIM/MTHU008446 http://purl.bioontology.org/ontology/OMIM/MTHU065094 http://purl.bioontology.org/ontology/OMIM/MTHU030343 http://purl.bioontology.org/ontology/OMIM/MTHU065095 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	6q16.2
tui	T047
cui	C5193139

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