Entry Search - 300376 300377 302045 310200 - OMIM
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Search: '300376 300377 302045 310200 (Search in: MIM number)'
Results: 4 entries.

1:
* 300377. DYSTROPHIN; DMD
APO-DYSTROPHIN 1, INCLUDED
Cytogenetic location: Xp21.2-p21.1, Genomic coordinates (GRCh38): X:31,119,222-33,339,388
Matching terms: 300377
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xp21.2-p21.1 Becker muscular dystrophy 300376 XLR 3
Cardiomyopathy, dilated, 3B 302045 XL 3
Duchenne muscular dystrophy 310200 XLR 3
ICD+
SNOMEDCT: 387732009, 702424003, 76670001

2:
# 300376. MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 300376
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xp21.2-p21.1 Becker muscular dystrophy 300376 XLR 3 DMD 300377
ICD+
SNOMEDCT: 387732009
ORPHA: 98895
DO: 9883

3:
# 310200. MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 310200
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xp21.2-p21.1 Duchenne muscular dystrophy 310200 XLR 3 DMD 300377
ICD+
SNOMEDCT: 387732009, 76670001
ORPHA: 98896
DO: 11723

4:
# 302045. CARDIOMYOPATHY, DILATED, 3B; CMD3B
Cytogenetic location: Xp21.2-p21.1
Matching terms: 302045
 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
Xp21.2-p21.1 Cardiomyopathy, dilated, 3B 302045 XL 3 DMD 300377
Dilated cardiomyopathy - PS115200 - 60 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p36.32 Cardiomyopathy, dilated, 1LL AD 3 615373 PRDM16 605557
1p36.32 Left ventricular noncompaction 8 AD 3 615373 PRDM16 605557
1p34.2 Cardiomyopathy, dilated, 2C AR 3 618189 PPCS 609853
1p31.1 Cardiomyopathy, dilated, 1CC AD 3 613122 NEXN 613121
1q22 Cardiomyopathy, dilated, 1A AD 3 115200 LMNA 150330
1q32.1 Left ventricular noncompaction 6 AD 3 601494 TNNT2 191045
1q32.1 Cardiomyopathy, dilated, 1D AD 3 601494 TNNT2 191045
1q42.13 Cardiomyopathy, dilated, 1V AD 3 613697 PSEN2 600759
1q43 Cardiomyopathy, dilated, 1AA, with or without LVNC AD 3 612158 ACTN2 102573
1q43 Cardiomyopathy, hypertrophic, 23, with or without LVNC AD 3 612158 ACTN2 102573
2q14-q22 Cardiomyopathy, dilated, 1H 2 604288 CMD1H 604288
2q31.2 Cardiomyopathy, dilated, 1G AD 3 604145 TTN 188840
2q35 Cardiomyopathy, dilated, 1I AD 3 604765 DES 125660
3p25.2 Cardiomyopathy, dilated, 1NN AD 3 615916 RAF1 164760
3p22.2 Cardiomyopathy, dilated, 1E AD 3 601154 SCN5A 600163
3p21.1 Cardiomyopathy, dilated, 1Z AD 3 611879 TNNC1 191040
5p15.33 Cardiomyopathy, dilated, 1GG AR 3 613642 SDHA 600857
5q33.2-q33.3 Cardiomyopathy, dilated, 1L 3 606685 SGCD 601411
6p22.3 Cardiomyopathy, dilated, 2I AR 3 620462 CAP2 618385
6q12-q16 Cardiomyopathy, dilated, 1K 2 605582 CMD1K 605582
6q21 Cardiomyopathy, dilated, 1JJ AD 3 615235 LAMA4 600133
6q22.31 Cardiomyopathy, dilated, 1P 3 609909 PLN 172405
6q23.2 ?Cardiomyopathy, dilated, 1J AD 3 605362 EYA4 603550
7q21.2 ?Cardiomyopathy, dilated, 2B AR 3 614672 GATAD1 614518
7q22.3-q31.1 Cardiomyopathy, dilated, 1Q 2 609915 CMD1Q 609915
7q31.32 Cardiomyopathy, dilated, 2G AR 3 619897 LMOD2 608006
9q13 Cardiomyopathy, dilated 1B AD 2 600884 CMD1B 600884
9q31.2 Cardiomyopathy, dilated, 1X AR 3 611615 FKTN 607440
10q21.3 Cardiomyopathy, dilated, 1KK AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, familial restrictive, 4 AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, hypertrophic, 22 AD 3 615248 MYPN 608517
10q22.2 Cardiomyopathy, dilated, 1W 3 611407 VCL 193065
10q23.2 Cardiomyopathy, dilated, 1C, with or without LVNC AD 3 601493 LDB3 605906
10q23.2 Cardiomyopathy, hypertrophic, 24 AD 3 601493 LDB3 605906
10q23.2 Left ventricular noncompaction 3 AD 3 601493 LDB3 605906
10q25.2 Cardiomyopathy, dilated, 1DD AD 3 613172 RBM20 613171
10q26.11 Cardiomyopathy, dilated, 1HH AD 3 613881 BAG3 603883
11p15.1 ?Cardiomyopathy, dilated, 1M 3 607482 CSRP3 600824
11p11.2 Cardiomyopathy, dilated, 1MM AD 3 615396 MYBPC3 600958
11p11.2 Left ventricular noncompaction 10 AD 3 615396 MYBPC3 600958
11q23.1 Cardiomyopathy, dilated, 1II AD 3 615184 CRYAB 123590
12p12.1 Cardiomyopathy, dilated, 1O AD 3 608569 ABCC9 601439
14q11.2 Cardiomyopathy, dilated, 1EE AD 3 613252 MYH6 160710
14q11.2 Left ventricular noncompaction 5 AD 3 613426 MYH7 160760
14q11.2 Cardiomyopathy, dilated, 1S AD 3 613426 MYH7 160760
14q24.2 ?Cardiomyopathy, dilated, 1U AD 3 613694 PSEN1 104311
14q32.33 Cardiomyopathy, dilated, 2F AR 3 619747 BAG5 603885
15q14 Cardiomyopathy, dilated, 1R AD 3 613424 ACTC1 102540
15q14 Left ventricular noncompaction 4 AD 3 613424 ACTC1 102540
15q22.2 Cardiomyopathy, dilated, 1Y AD 3 611878 TPM1 191010
15q22.2 Left ventricular noncompaction 9 AD 3 611878 TPM1 191010
16p13.3 Cardiomyopathy, dilated, 2D AR 3 619371 RPL3L 617416
17p11.2 Cardiomyopathy, dilated, 2J AR 3 620635 FLII 600362
17q22 ?Cardiomyopathy, dilated, 1OO AD 3 620247 VEZF1 606747
18q12.1 Cardiomyopathy, dilated, 1BB AR 3 612877 DSG2 125671
19p13.13 ?Cardiomyopathy, dilated, 2H AR 3 620203 GET3 601913
19q13.42 Cardiomyopathy, dilated, 1FF 3 613286 TNNI3 191044
19q13.42 ?Cardiomyopathy, dilated, 2A AR 3 611880 TNNI3 191044
20q13.12 Cardiomyopathy, dilated, 2E AR 3 619492 JPH2 605267
Xp21.2-p21.1 Cardiomyopathy, dilated, 3B XL 3 302045 DMD 300377
ICD+
SNOMEDCT: 702424003
ORPHA: 154
DO: 0110461
Search: 300376 300377 302045 310200 (Search in: MIM number)
Results: 4 entries.

1:
* 300377. DYSTROPHIN; DMD
APO-DYSTROPHIN 1, INCLUDED
Cytogenetic location: Xp21.2-p21.1, Genomic coordinates (GRCh38): X:31,119,222-33,339,388
Matching terms: 300377

2:
# 300376. MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 300376

3:
# 310200. MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 310200

4:
# 302045. CARDIOMYOPATHY, DILATED, 3B; CMD3B
Cytogenetic location: Xp21.2-p21.1
Matching terms: 302045