Entry Search - 153700 193220 607854 611809

Search: '153700 193220 607854 611809 (Search in: MIM number)'

Results: 4 entries.

* 607854. BESTROPHIN 1; BEST1
Cytogenetic location: 11q12.3, Genomic coordinates (GRCh38): 11:61,949,821-61,965,515
Matching terms: 607854
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q12.3	?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	193220	AD	3
	Bestrophinopathy, autosomal recessive	611809		3
	Macular dystrophy, vitelliform, 2	153700	AD	3
	Retinitis pigmentosa-50	613194		3
	Retinitis pigmentosa, concentric	613194		3
	Vitreoretinochoroidopathy	193220	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs University of Regensburg B… Mutations of the Bestrophi… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00007988 WBGene00008186 WBGene00008821 WBGene00009323 WBGene00009340 WBGene00014989 WBGene00015288 WBGene00015628 WBGene00016613 WBGene00020046 WBGene00021368 WBGene00022797 WBGene00206487 WBGene00220250 ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 711162004, 723828008, 763387005

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# 611809. BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
Cytogenetic location: 11q12.3
Matching terms: 611809
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
11q12.3	Bestrophinopathy, autosomal recessive	611809		3	BEST1	607854

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 723828008 ORPHA: 139455 DO: 0050662

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# 153700. MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
Cytogenetic location: 11q12.3
Matching terms: 153700
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
11q12.3	Macular dystrophy, vitelliform, 2	153700	AD	3	BEST1	607854

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Macular dystrophy, vitelliform - PS153840 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q12.3	Macular dystrophy, vitelliform, 5	AD	3	616152	IMPG2	607056
6p21.1	Macular dystrophy, vitelliform, 3	AD	3	608161	PRPH2	179605
6q14.1	Macular dystrophy, vitelliform, 4	AD, AR	3	616151	IMPG1	602870
11q12.3	Macular dystrophy, vitelliform, 2	AD	3	153700	BEST1	607854
Not Mapped	Macular dystrophy, vitelliform, 1	AD		153840	VMD1	153840

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 763387005 ORPHA: 1243 DO: 0050661

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# 193220. VITREORETINOCHOROIDOPATHY; VRCP
MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2, INCLUDED; MRCS2, INCLUDED
Cytogenetic locations: 11q12.3,
Matching terms: 193220
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
11q12.3	Vitreoretinochoroidopathy	193220	AD	3	BEST1	607854
11q12.3	?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	193220	AD	3	BEST1	607854

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Links
Testing GTR EuroGentest MRCS syndrome Autosomal dominant vitreor…	Clinical Resources Clinical Trials EuroGentest MRCS syndrome Autosomal dominant vitreor… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet MRCS syndrome Autosomal dominant vitreor…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 711162004 ORPHA: 263347, 3086 DO: 0111569

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Search: 153700 193220 607854 611809 (Search in: MIM number)

Results: 4 entries.

* 607854. BESTROPHIN 1; BEST1
Cytogenetic location: 11q12.3, Genomic coordinates (GRCh38): 11:61,949,821-61,965,515
Matching terms: 607854

# 611809. BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
Cytogenetic location: 11q12.3
Matching terms: 611809

# 153700. MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
Cytogenetic location: 11q12.3
Matching terms: 153700

# 193220. VITREORETINOCHOROIDOPATHY; VRCP
MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2, INCLUDED; MRCS2, INCLUDED
Cytogenetic locations: 11q12.3,
Matching terms: 193220

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