Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/268100 http://purl.bioontology.org/ontology/OMIM/268100
Preferred Name	ENHANCED S-CONE SYNDROME
Synonyms	FAVRE HYALOIDEORETINAL DEGENERATION ESCS RETINOSCHISIS WITH EARLY HEMERALOPIA GOLDMANN-FAVRE SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FAVRE HYALOIDEORETINAL DEGENERATION ESCS RETINOSCHISIS WITH EARLY HEMERALOPIA GOLDMANN-FAVRE SYNDROME
prefLabel	ENHANCED S-CONE SYNDROME
Gene Symbol	NR2E3 ESCS RP37 PNR
notation	268100
Scope Statement	Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0001) [MOLECULAR BASIS]
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/MTHU002188 http://purl.bioontology.org/ontology/OMIM/MTHU061592 http://purl.bioontology.org/ontology/OMIM/MTHU012053 http://purl.bioontology.org/ontology/OMIM/MTHU031512 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU061591 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU061593 http://purl.bioontology.org/ontology/OMIM/MTHU032605 http://purl.bioontology.org/ontology/OMIM/MTHU038321 http://purl.bioontology.org/ontology/OMIM/MTHU006950 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	15q23
tui	T047
cui	C1849394 C0339541

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