Entry Search - 118423 604356 607343 608968 617041 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '118423 604356 607343 608968 617041 (Search in: MIM number)'
Results: 5 entries.

1:
* 118423. CHIMERIN 1; CHN1
CHIMERIN, ALPHA-2, INCLUDED
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:174,798,809-175,005,381
Matching terms: 118423
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q31.1 Duane retraction syndrome 2 604356 AD 3
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2:
* 608968. MAF bZIP TRANSCRIPTION FACTOR B; MAFB
Cytogenetic location: 20q12, Genomic coordinates (GRCh38): 20:40,685,848-40,689,236
Matching terms: 608968
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
20q12 Duane retraction syndrome 3 617041 AD 3
Multicentric carpotarsal osteolysis syndrome 166300 AD 3
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ICD+
SNOMEDCT: 766992008
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3:
# 617041. DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3
Cytogenetic location: 20q12
Matching terms: 617041
► 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
20q12 Duane retraction syndrome 3 617041 AD 3 MAFB 608968
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Duane retraction syndrome - PS126800 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q31.1 Duane retraction syndrome 2 AD 3 604356 CHN1 118423
8q13 Duane retraction syndrome 1 AD 2 126800 DURS1 126800
20q12 Duane retraction syndrome 3 AD 3 617041 MAFB 608968
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ICD+
ORPHA: 233, 529574
DO: 0061029
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4:
# 604356. DUANE RETRACTION SYNDROME 2; DURS2
Cytogenetic location: 2q31.1
Matching terms: 604356
► 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
2q31.1 Duane retraction syndrome 2 604356 AD 3 CHN1 118423
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Duane retraction syndrome - PS126800 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q31.1 Duane retraction syndrome 2 AD 3 604356 CHN1 118423
8q13 Duane retraction syndrome 1 AD 2 126800 DURS1 126800
20q12 Duane retraction syndrome 3 AD 3 617041 MAFB 608968
▲ Close
ICD+
ORPHA: 233
DO: 0061028
▲ Close

5:
* 607343. SAL-LIKE 4; SALL4
Cytogenetic location: 20q13.2, Genomic coordinates (GRCh38): 20:51,782,331-51,802,521
Matching terms: 607343
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
20q13.2 ?IVIC syndrome 147750 AD 3
Duane-radial ray syndrome 607323 AD 3
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ICD+
SNOMEDCT: 699867001, 722019000
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Search: 118423 604356 607343 608968 617041 (Search in: MIM number)
Results: 5 entries.

1:
* 118423. CHIMERIN 1; CHN1
CHIMERIN, ALPHA-2, INCLUDED
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:174,798,809-175,005,381
Matching terms: 118423

2:
* 608968. MAF bZIP TRANSCRIPTION FACTOR B; MAFB
Cytogenetic location: 20q12, Genomic coordinates (GRCh38): 20:40,685,848-40,689,236
Matching terms: 608968

3:
# 617041. DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3
Cytogenetic location: 20q12
Matching terms: 617041

4:
# 604356. DUANE RETRACTION SYNDROME 2; DURS2
Cytogenetic location: 2q31.1
Matching terms: 604356

5:
* 607343. SAL-LIKE 4; SALL4
Cytogenetic location: 20q13.2, Genomic coordinates (GRCh38): 20:51,782,331-51,802,521
Matching terms: 607343


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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 5, 2025