Entry Search - 133780 601813 603506 604579 605750 613138 613310 - OMIM
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Search: '133780 601813 603506 604579 605750 613138 613310 (Search in: MIM number)'
Results: 7 entries.

1:
# 133780. EXUDATIVE VITREORETINOPATHY 1; EVR1
RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
Cytogenetic locations: 11q14.2,
Matching terms: 133780
► 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
11q14.2 Exudative vitreoretinopathy 1 133780 AD 3 FZD4 604579
11q14.2 Retinopathy of prematurity 133780 AD 3 FZD4 604579
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ICD+
SNOMEDCT: 415297005
ICD10CM: H35.1, H35.10, H35.17
ICD9CM: 362.20, 362.21
ORPHA: 891, 90050
DO: 0111412
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2:
* 604579. FRIZZLED CLASS RECEPTOR 4; FZD4
Cytogenetic location: 11q14.2, Genomic coordinates (GRCh38): 11:86,945,679-86,955,395
Matching terms: 604579
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q14.2 Exudative vitreoretinopathy 1 133780 AD 3
Retinopathy of prematurity 133780 AD 3
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ICD+
SNOMEDCT: 415297005
ICD10CM: H35.1, H35.10, H35.17
ICD9CM: 362.20, 362.21
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3:
% 605750. EXUDATIVE VITREORETINOPATHY 3; EVR3
Cytogenetic location: 11p13-p12, Genomic coordinates (GRCh38): 11:31,000,001-43,400,000
Matching terms: 605750
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11p13-p12 Exudative vitreoretinopathy 3 605750 AD 2
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Links
Testing
EuroGentest
Gene Info
BioGPS
KEGG
NCBI Gene
Clinical Resources
Clinical Trials
EuroGentest
OrphaNet
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ICD+
ORPHA: 891
DO: 0111409
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4:
* 613138. TETRASPANIN 12; TSPAN12
Cytogenetic location: 7q31.31, Genomic coordinates (GRCh38): 7:120,787,320-120,858,335
Matching terms: 613138
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
7q31.31 Exudative vitreoretinopathy 5 613310 AD 3
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5:
# 613310. EXUDATIVE VITREORETINOPATHY 5; EVR5
Cytogenetic location: 7q31.31
Matching terms: 613310
► 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
7q31.31 Exudative vitreoretinopathy 5 613310 AD 3 TSPAN12 613138
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ICD+
ORPHA: 891
DO: 0111408
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6:
# 601813. EXUDATIVE VITREORETINOPATHY 4; EVR4
Cytogenetic location: 11q13.2
Matching terms: 601813
► 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
11q13.2 Exudative vitreoretinopathy 4 601813 AD, AR 3 LRP5 603506
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ICD+
ORPHA: 891
DO: 0111411
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7:
* 603506. LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
Cytogenetic location: 11q13.2, Genomic coordinates (GRCh38): 11:68,298,412-68,449,275
Matching terms: 603506
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q13.2 [Bone mineral density variability 1] 601884 AD 3
Endosteal hyperostosis 144750 AD 3
Exudative vitreoretinopathy 4 601813 AD, AR 3
Osteopetrosis, autosomal dominant 1 607634 AD 3
Osteoporosis-pseudoglioma syndrome 259770 AR 3
Polycystic liver disease 4 with or without kidney cysts 617875 AD 3
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ICD+
SNOMEDCT: 1264041000, 254112001, 254131007
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Search: 133780 601813 603506 604579 605750 613138 613310 (Search in: MIM number)
Results: 7 entries.

1:
# 133780. EXUDATIVE VITREORETINOPATHY 1; EVR1
RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
Cytogenetic locations: 11q14.2,
Matching terms: 133780

2:
* 604579. FRIZZLED CLASS RECEPTOR 4; FZD4
Cytogenetic location: 11q14.2, Genomic coordinates (GRCh38): 11:86,945,679-86,955,395
Matching terms: 604579

3:
% 605750. EXUDATIVE VITREORETINOPATHY 3; EVR3
Cytogenetic location: 11p13-p12, Genomic coordinates (GRCh38): 11:31,000,001-43,400,000
Matching terms: 605750

4:
* 613138. TETRASPANIN 12; TSPAN12
Cytogenetic location: 7q31.31, Genomic coordinates (GRCh38): 7:120,787,320-120,858,335
Matching terms: 613138

5:
# 613310. EXUDATIVE VITREORETINOPATHY 5; EVR5
Cytogenetic location: 7q31.31
Matching terms: 613310

6:
# 601813. EXUDATIVE VITREORETINOPATHY 4; EVR4
Cytogenetic location: 11q13.2
Matching terms: 601813

7:
* 603506. LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
Cytogenetic location: 11q13.2, Genomic coordinates (GRCh38): 11:68,298,412-68,449,275
Matching terms: 603506


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 14, 2025