Entry Search - 120220 120240 120250 158810 254090 255600 620725 620726 620727 620728

Search: '120220 120240 120250 158810 254090 255600 620725 620726 620727 620728 (Search in: MIM number)'

Results: 10 entries.

* 120220. COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:45,981,770-46,005,048
Matching terms: 120220
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
21q22.3	Bethlem myopathy 1A	158810	AD	3
21q22.3	Ullrich congenital muscular dystrophy 1A	254090	AD, AR	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 718572004

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* 120240. COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:46,098,112-46,132,848
Matching terms: 120240
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
21q22.3	?Myosclerosis, congenital	255600	AR	3
	Bethlem myopathy 1B	620725	AD, AR	3
	Ullrich congenital muscular dystrophy 1B	620727	AD, AR	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 MedlinePlus Genetics GTR POSSUM	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000653 WBGene00000697 WBGene00000714 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 763895001

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* 120250. COLLAGEN, TYPE VI, ALPHA-3; COL6A3
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:237,324,018-237,414,164
Matching terms: 120250
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q37.3	Bethlem myopathy 1C	620726	AD, AR	3
	Dystonia 27	616411	AR	3
	Ullrich congenital muscular dystrophy 1C	620728	AD, AR	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1220573009

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# 158810. BETHLEM MYOPATHY 1A; BTHLM1A
Cytogenetic location: 21q22.3
Matching terms: 158810
► 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
21q22.3	Bethlem myopathy 1A	158810	AD	3	COL6A1	120220

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Bethlem myopathy - PS158810 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Bethlem myopathy 1C	AD, AR	3	620726	COL6A3	120250
6q13-q14.1	Bethlem myopathy 2	AD	3	616471	COL12A1	120320
21q22.3	Bethlem myopathy 1A	AD	3	158810	COL6A1	120220
21q22.3	Bethlem myopathy 1B	AD, AR	3	620725	COL6A2	120240

Muscular dystrophy, limb-girdle, autosomal dominant - PS603511 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p25.1-p23	Muscular dystrophy, limb-girdle, type 1H	AD	2	613530	LGMD1H	613530
4q21.22	Muscular dystrophy, limb-girdle, autosomal dominant 3	AD	3	609115	HNRNPDL	607137
7q32.1	Muscular dystrophy, limb-girdle, autosomal dominant 2	AD	3	608423	TNPO3	610032
7q36.3	Muscular dystrophy, limb-girdle, autosomal dominant 1	AD	3	603511	DNAJB6	611332
15q15.1	Muscular dystrophy, limb-girdle, autosomal dominant 4	AD	3	618129	CAPN3	114240
21q22.3	Bethlem myopathy 1A	AD	3	158810	COL6A1	120220

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Links
Testing GTR EuroGentest Bethlem muscular dystrophy Collagen VI-related congen… Intermediate collagen VI-r…	Clinical Resources Clinical Trials EuroGentest Bethlem muscular dystrophy Collagen VI-related congen… Intermediate collagen VI-r… Gene Reviews Genetic Alliance GTR OrphaNet Bethlem muscular dystrophy Collagen VI-related congen… Intermediate collagen VI-r…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 718572004 ORPHA: 610, 646098, 646113 DO: 0050663

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# 254090. ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC, INCLUDED; UCMD1A/1B, DIGENIC, INCLUDED
Cytogenetic location: 21q22.3
Matching terms: 254090
► 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
21q22.3	Ullrich congenital muscular dystrophy 1A	254090	AD, AR	3	COL6A1	120220

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Ullrich congenital muscular dystrophy - PS254090 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Ullrich congenital muscular dystrophy 1C	AD, AR	3	620728	COL6A3	120250
6q13-q14.1	?Ullrich congenital muscular dystrophy 2	AR	3	616470	COL12A1	120320
21q22.3	Ullrich congenital muscular dystrophy 1A	AD, AR	3	254090	COL6A1	120220
21q22.3	Ullrich congenital muscular dystrophy 1B	AD, AR	3	620727	COL6A2	120240

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

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Links
Testing GTR EuroGentest Collagen VI-related congen… Intermediate collagen VI-r… Ullrich congenital muscula…	Clinical Resources Clinical Trials EuroGentest Collagen VI-related congen… Intermediate collagen VI-r… Ullrich congenital muscula… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Collagen VI-related congen… Intermediate collagen VI-r… Ullrich congenital muscula… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
ORPHA: 646098, 646113, 75840 DO: 0060946

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# 255600. MYOSCLEROSIS, AUTOSOMAL RECESSIVE
Cytogenetic location: 21q22.3
Matching terms: 255600
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
21q22.3	?Myosclerosis, congenital	255600	AR	3	COL6A2	120240

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet

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ICD+
SNOMEDCT: 763895001 ORPHA: 289380

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# 620725. BETHLEM MYOPATHY 1B; BTHLM1B
Cytogenetic location: 21q22.3
Matching terms: 620725
► 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
21q22.3	Bethlem myopathy 1B	620725	AD, AR	3	COL6A2	120240

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Bethlem myopathy - PS158810 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Bethlem myopathy 1C	AD, AR	3	620726	COL6A3	120250
6q13-q14.1	Bethlem myopathy 2	AD	3	616471	COL12A1	120320
21q22.3	Bethlem myopathy 1A	AD	3	158810	COL6A1	120220
21q22.3	Bethlem myopathy 1B	AD, AR	3	620725	COL6A2	120240

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Links
Testing EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet

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ICD+
ORPHA: 610

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# 620726. BETHLEM MYOPATHY 1C; BTHLM1C
Cytogenetic location: 2q37.3
Matching terms: 620726
► 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
2q37.3	Bethlem myopathy 1C	620726	AD, AR	3	COL6A3	120250

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Bethlem myopathy - PS158810 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Bethlem myopathy 1C	AD, AR	3	620726	COL6A3	120250
6q13-q14.1	Bethlem myopathy 2	AD	3	616471	COL12A1	120320
21q22.3	Bethlem myopathy 1A	AD	3	158810	COL6A1	120220
21q22.3	Bethlem myopathy 1B	AD, AR	3	620725	COL6A2	120240

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Links
Testing EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet

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ICD+
ORPHA: 610

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# 620727. ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC, INCLUDED; UCMD1A/1B, DIGENIC, INCLUDED
Cytogenetic location: 21q22.3
Matching terms: 620727
► 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
21q22.3	Ullrich congenital muscular dystrophy 1B	620727	AD, AR	3	COL6A2	120240

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Ullrich congenital muscular dystrophy - PS254090 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Ullrich congenital muscular dystrophy 1C	AD, AR	3	620728	COL6A3	120250
6q13-q14.1	?Ullrich congenital muscular dystrophy 2	AR	3	616470	COL12A1	120320
21q22.3	Ullrich congenital muscular dystrophy 1A	AD, AR	3	254090	COL6A1	120220
21q22.3	Ullrich congenital muscular dystrophy 1B	AD, AR	3	620727	COL6A2	120240

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Links
Clinical Resources Clinical Trials Gene Reviews	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
DO: 0060942

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10:

# 620728. ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
Cytogenetic location: 2q37.3
Matching terms: 620728
► 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
2q37.3	Ullrich congenital muscular dystrophy 1C	620728	AD, AR	3	COL6A3	120250

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Ullrich congenital muscular dystrophy - PS254090 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.3	Ullrich congenital muscular dystrophy 1C	AD, AR	3	620728	COL6A3	120250
6q13-q14.1	?Ullrich congenital muscular dystrophy 2	AR	3	616470	COL12A1	120320
21q22.3	Ullrich congenital muscular dystrophy 1A	AD, AR	3	254090	COL6A1	120220
21q22.3	Ullrich congenital muscular dystrophy 1B	AD, AR	3	620727	COL6A2	120240

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Links
Clinical Resources Clinical Trials Gene Reviews	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
DO: 0060943

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Search: 120220 120240 120250 158810 254090 255600 620725 620726 620727 620728 (Search in: MIM number)

Results: 10 entries.

* 120220. COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:45,981,770-46,005,048
Matching terms: 120220

* 120240. COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:46,098,112-46,132,848
Matching terms: 120240

* 120250. COLLAGEN, TYPE VI, ALPHA-3; COL6A3
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:237,324,018-237,414,164
Matching terms: 120250

# 158810. BETHLEM MYOPATHY 1A; BTHLM1A
Cytogenetic location: 21q22.3
Matching terms: 158810

# 255600. MYOSCLEROSIS, AUTOSOMAL RECESSIVE
Cytogenetic location: 21q22.3
Matching terms: 255600

# 620725. BETHLEM MYOPATHY 1B; BTHLM1B
Cytogenetic location: 21q22.3
Matching terms: 620725

# 620726. BETHLEM MYOPATHY 1C; BTHLM1C
Cytogenetic location: 2q37.3
Matching terms: 620726

10:

# 620728. ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
Cytogenetic location: 2q37.3
Matching terms: 620728

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