Entry Search - 120150 120190 120215 130000 - OMIM
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Search: '120150 120190 120215 130000 (Search in: MIM number)'
Results: 4 entries.

1:
* 120215. COLLAGEN, TYPE V, ALPHA-1; COL5A1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:134,641,803-134,844,843
Matching terms: 120215
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
9q34.3 Ehlers-Danlos syndrome, classic type, 1 130000 AD 3
Fibromuscular dysplasia, multifocal 619329 AD 3
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2:
# 130000. EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
Cytogenetic location: 9q34.3
Matching terms: 130000
► 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
9q34.3 Ehlers-Danlos syndrome, classic type, 1 130000 AD 3 COL5A1 120215
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Ehlers-Danlos syndrome - PS130000 - 23 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.33 Ehlers-Danlos syndrome, spondylodysplastic type, 2 AR 3 615349 B3GALT6 615291
1p36.22 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 AR 3 225400 PLOD1 153454
2q32.2 Ehlers-Danlos syndrome, vascular type AD 3 130050 COL3A1 120180
2q32.2 Ehlers-Danlos syndrome, classic type, 2 AD 3 130010 COL5A2 120190
4q27 Brittle cornea syndrome 2 AR 3 614170 PRDM5 614161
5q35.3 Ehlers-Danlos syndrome, spondylodysplastic type, 1 AR 3 130070 B4GALT7 604327
5q35.3 Ehlers-Danlos syndrome, dermatosparaxis type AR 3 225410 ADAMTS2 604539
6p21.33-p21.32 Ehlers-Danlos syndrome, classic-like, 1 AR 3 606408 TNXB 600985
6q13-q14.1 Bethlem myopathy 2 AD 3 616471 COL12A1 120320
6q22.1 Ehlers-Danlos syndrome, musculocontractural type 2 AR 3 615539 DSE 605942
6q27 ?Ehlers-Danlos syndrome, classic-like, 3 AD 3 620865 THBS2 188061
7p14.3 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 AR 3 614557 FKBP14 614505
7p13 Ehlers-Danlos syndrome, classic-like, 2 AR 3 618000 AEBP1 602981
7q21.3 Ehlers-Danlos syndrome, arthrochalasia type, 2 AD 3 617821 COL1A2 120160
7q21.3 Ehlers-Danlos syndrome, cardiac valvular type AR 3 225320 COL1A2 120160
9q34.3 Ehlers-Danlos syndrome, classic type, 1 AD 3 130000 COL5A1 120215
11p11.2 Ehlers-Danlos syndrome, spondylodysplastic type, 3 AR 3 612350 SLC39A13 608735
12p13.31 Ehlers-Danlos syndrome, periodontal type, 2 AD 3 617174 C1S 120580
12p13.31 Ehlers-Danlos syndrome, periodontal type, 1 AD 3 130080 C1R 613785
15q15.1 Ehlers-Danlos syndrome, musculocontractural type 1 AR 3 601776 CHST14 608429
16q24.2 Brittle cornea syndrome 1 AR 3 229200 ZNF469 612078
17q21.33 Ehlers-Danlos syndrome, arthrochalasia type, 1 AD 3 130060 COL1A1 120150
Not Mapped Ehlers-Danlos syndrome, hypermobility type AD 130020 EDSHMB 130020
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ICD+
ORPHA: 287
DO: 14720
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3:
* 120150. COLLAGEN, TYPE I, ALPHA-1; COL1A1
COL1A1/PDGFB FUSION GENE, INCLUDED
Cytogenetic location: 17q21.33, Genomic coordinates (GRCh38): 17:50,184,101-50,201,631
Matching terms: 120150
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q21.33 {Bone mineral density variation QTL, osteoporosis} 166710 AD 3
Caffey disease 114000 AD 3
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 619115 AD 3
Ehlers-Danlos syndrome, arthrochalasia type, 1 130060 AD 3
Osteogenesis imperfecta, type I 166200 AD 3
Osteogenesis imperfecta, type II 166210 AD 3
Osteogenesis imperfecta, type III 259420 AD 3
Osteogenesis imperfecta, type IV 166220 AD 3
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ICD+
SNOMEDCT: 1197018005, 205496008, 205497004, 24752008, 254110009, 385482004, 385483009, 7134007, 715318006, 78314001
ICD10CM: M89.8, Q78.0, Q79.61
ICD9CM: 756.51
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4:
* 120190. COLLAGEN, TYPE V, ALPHA-2; COL5A2
Cytogenetic location: 2q32.2, Genomic coordinates (GRCh38): 2:189,031,898-189,441,111
Matching terms: 120190
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q32.2 Ehlers-Danlos syndrome, classic type, 2 130010 AD 3
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ICD+
SNOMEDCT: 1287094005
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Search: 120150 120190 120215 130000 (Search in: MIM number)
Results: 4 entries.

1:
* 120215. COLLAGEN, TYPE V, ALPHA-1; COL5A1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:134,641,803-134,844,843
Matching terms: 120215

2:
# 130000. EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
Cytogenetic location: 9q34.3
Matching terms: 130000

3:
* 120150. COLLAGEN, TYPE I, ALPHA-1; COL1A1
COL1A1/PDGFB FUSION GENE, INCLUDED
Cytogenetic location: 17q21.33, Genomic coordinates (GRCh38): 17:50,184,101-50,201,631
Matching terms: 120150

4:
* 120190. COLLAGEN, TYPE V, ALPHA-2; COL5A2
Cytogenetic location: 2q32.2, Genomic coordinates (GRCh38): 2:189,031,898-189,441,111
Matching terms: 120190


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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