Entry Search - 608662 611307 613319 - OMIM
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Search: '608662 611307 613319 (Search in: MIM number)'
Results: 3 entries.

1:
* 608662. ANOCTAMIN 5; ANO5
Cytogenetic location: 11p14.3, Genomic coordinates (GRCh38): 11:22,192,473-22,283,357
Matching terms: 608662
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11p14.3 Gnathodiaphyseal dysplasia 166260 AD 3
Miyoshi muscular dystrophy 3 613319 AR 3
Muscular dystrophy, limb-girdle, autosomal recessive 12 611307 AR 3
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ICD+
SNOMEDCT: 715568002, 726616006, 783166000
ICD10CM: G71.035
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2:
# 613319. MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
Cytogenetic location: 11p14.3
Matching terms: 613319
► 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
11p14.3 Miyoshi muscular dystrophy 3 613319 AR 3 ANO5 608662
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Miyoshi muscular dystrophy - PS254130 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p13.2 Miyoshi muscular dystrophy 1 AR 3 254130 DYSF 603009
8q22.3 Miyoshi muscular dystrophy 2 2 613318 MMD2 613318
11p14.3 Miyoshi muscular dystrophy 3 AR 3 613319 ANO5 608662
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ICD+
SNOMEDCT: 783166000
ORPHA: 399096
DO: 0070201
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3:
# 611307. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12
Cytogenetic location: 11p14.3
Matching terms: 611307
► 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
11p14.3 Muscular dystrophy, limb-girdle, autosomal recessive 12 611307 AR 3 ANO5 608662
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Muscular dystrophy, limb-girdle, autosomal recessive - PS253600 - 31 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 AR 3 613157 POMGNT1 606822
1q25.2 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures AR 3 617072 TOR1AIP1 614512
2p13.2 Muscular dystrophy, limb-girdle, autosomal recessive 2 AR 3 253601 DYSF 603009
2q14.3 ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue AR 3 616827 LIMS2 607908
2q31.2 Muscular dystrophy, limb-girdle, autosomal recessive 10 AR 3 608807 TTN 188840
3p22.1 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 AR 3 618135 POMGNT2 614828
3p21.31 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 AR 3 613818 DAG1 128239
3p21.31 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR 3 615352 GMPPB 615320
3q13.33 Muscular dystrophy, limb-girdle, autosomal recessive 21 AR 3 617232 POGLUT1 615618
4q12 Muscular dystrophy, limb-girdle, autosomal recessive 4 AR 3 604286 SGCB 600900
4q35.1 Muscular dystrophy, limb-girdle, autosomal recessive 18 AR 3 615356 TRAPPC11 614138
5q13.3 Muscular dystrophy, limb-girdle, autosomal recessive 28 AR 3 620375 HMGCR 142910
5q33.2-q33.3 Muscular dystrophy, limb-girdle, autosomal recessive 6 AR 3 601287 SGCD 601411
6q21 Muscular dystrophy, limb-girdle, autosomal recessive 25 AR 3 616812 BVES 604577
6q21 Muscular dystrophy, limb-girdle, autosomal recessive 26 AR 3 618848 POPDC3 605824
6q22.33 Muscular dystrophy, limb-girdle, autosomal recessive 23 AR 3 618138 LAMA2 156225
7p21.2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 AR 3 616052 CRPPA 614631
8q24.3 Muscular dystrophy, limb-girdle, autosomal recessive 17 AR 3 613723 PLEC1 601282
9q31.2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 AR 3 611588 FKTN 607440
9q33.1 Muscular dystrophy, limb-girdle, autosomal recessive 8 AR 3 254110 TRIM32 602290
9q34.13 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 AR 3 609308 POMT1 607423
11p14.3 Muscular dystrophy, limb-girdle, autosomal recessive 12 AR 3 611307 ANO5 608662
13q12.12 Muscular dystrophy, limb-girdle, autosomal recessive 5 AR 3 253700 SGCG 608896
14q24.3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 AR 3 613158 POMT2 607439
14q32.33 Muscular dystrophy, limb-girdle, autosomal recessive 27 AR 3 619566 JAG2 602570
15q15.1 Muscular dystrophy, limb-girdle, autosomal recessive 1 AR 3 253600 CAPN3 114240
15q24.2 Muscular dystrophy, limb-girdle, autosomal recessive 29 AR 3 620793 SNUPN 607902
17q12 Muscular dystrophy, limb-girdle, autosomal recessive 7 AR 3 601954 TCAP 604488
17q21.33 Muscular dystrophy, limb-girdle, autosomal recessive 3 AR 3 608099 SGCA 600119
19q13.32 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 AR 3 607155 FKRP 606596
21q22.3 Ullrich congenital muscular dystrophy 1A AD, AR 3 254090 COL6A1 120220
▲ Close
ICD+
SNOMEDCT: 726616006
ICD10CM: G71.035
ORPHA: 206549
DO: 0110284
▲ Close
Search: 608662 611307 613319 (Search in: MIM number)
Results: 3 entries.

1:
* 608662. ANOCTAMIN 5; ANO5
Cytogenetic location: 11p14.3, Genomic coordinates (GRCh38): 11:22,192,473-22,283,357
Matching terms: 608662

2:
# 613319. MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
Cytogenetic location: 11p14.3
Matching terms: 613319

3:
# 611307. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12
Cytogenetic location: 11p14.3
Matching terms: 611307


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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