Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/615058 http://purl.bioontology.org/ontology/OMIM/615058
Preferred Name	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
Synonyms	CSNB1F
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CSNB1F
prefLabel	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
Gene Symbol	FIGLER4 CSNB1F LRIT3
notation	615058
Scope Statement	Caused by mutation in the leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein-3 gene (LRIT3, 615004.0001) [MOLECULAR BASIS] Based on 2 reported patients (last curated January 2013) [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/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU069531 http://purl.bioontology.org/ontology/OMIM/MTHU040875 http://purl.bioontology.org/ontology/OMIM/MTHU040873 http://purl.bioontology.org/ontology/OMIM/MTHU040874 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU040877 http://purl.bioontology.org/ontology/OMIM/MTHU040876 http://purl.bioontology.org/ontology/OMIM/MTHU040878 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	4q25
tui	T047
cui	C3554399

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