Entry Search - 113500 156530 168400 181405 184095 184252 600175 605427 606071 606835 606845 617383 - OMIM
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Search: '113500 156530 168400 181405 184095 184252 600175 605427 606071 606835 606845 617383 (Search in: MIM number)'
Results: 12 entries.
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1:
# 113500. BRACHYOLMIA TYPE 3; BCYM3
Cytogenetic location: 12q24.11
Matching terms: 113500
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.11 Brachyolmia type 3 113500 AD 3 TRPV4 605427
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ICD+
SNOMEDCT: 717264003
ORPHA: 93304
DO: 0050690
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2:
* 605427. TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:109,783,087-109,833,398
Matching terms: 605427
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q24.11 ?Avascular necrosis of femoral head, primary, 2 617383 AD 3
[Sodium serum level QTL 1] 613508 3
Brachyolmia type 3 113500 AD 3
Digital arthropathy-brachydactyly, familial 606835 AD 3
Hereditary motor and sensory neuropathy, type IIc 606071 AD 3
Metatropic dysplasia 156530 AD 3
Neuronopathy, distal hereditary motor, autosomal dominant 8 600175 AD 3
Parastremmatic dwarfism 168400 AD 3
Scapuloperoneal spinal muscular atrophy 181405 AD 3
SED, Maroteaux type 184095 AD 3
Spondylometaphyseal dysplasia, Kozlowski type 184252 AD 3
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ICD+
SNOMEDCT: 111304003, 22764001, 230248006, 717010007, 717264003, 719204007, 722210007, 763067000
ICD10CM: G12.1
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3:
# 606071. HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
Cytogenetic location: 12q24.11
Matching terms: 606071
► 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
12q24.11 Hereditary motor and sensory neuropathy, type IIc 606071 AD 3 TRPV4 605427
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Charcot-Marie-Tooth disease - PS118220 - 82 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.31 Charcot-Marie-Tooth disease, recessive intermediate C AR 3 615376 PLEKHG5 611101
1p36.22 Charcot-Marie-Tooth disease, type 2A1 AD 3 118210 KIF1B 605995
1p36.22 Charcot-Marie-Tooth disease, axonal, type 2A2A AD 3 609260 MFN2 608507
1p36.22 Hereditary motor and sensory neuropathy VIA AD 3 601152 MFN2 608507
1p36.22 Charcot-Marie-Tooth disease, axonal, type 2A2B AR 3 617087 MFN2 608507
1p35.1 Charcot-Marie-Tooth disease, dominant intermediate C AD 3 608323 YARS1 603623
1p13.1 Charcot-Marie-Tooth disease, axonal, type 2DD AD 3 618036 ATP1A1 182310
1q22 Charcot-Marie-Tooth disease, type 2B1 AR 3 605588 LMNA 150330
1q23.2 Charcot-Marie-Tooth disease, axonal, type 2FF AD 3 619519 CADM3 609743
1q23.3 Dejerine-Sottas disease AD, AR 3 145900 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, type 2I AD 3 607677 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, type 1B AD 3 118200 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, dominant intermediate D AD 3 607791 MPZ 159440
1q23.3 Charcot-Marie-Tooth disease, type 2J AD 3 607736 MPZ 159440
2p23.3 Charcot-Marie-Tooth disease, axonal, type 2EE AR 3 618400 MPV17 137960
3q21.3 Charcot-Marie-Tooth disease, type 2B AD 3 600882 RAB7 602298
3q25.2 Charcot-Marie-Tooth disease, axonal, type 2T AD, AR 3 617017 MME 120520
3q26.33 Charcot-Marie-Tooth disease, dominant intermediate F AD 3 615185 GNB4 610863
4q31.3 Charcot-Marie-Tooth disease, type 2R AR 3 615490 TRIM2 614141
5q31.3 Charcot-Marie-Tooth disease, axonal, type 2W AD 3 616625 HARS1 142810
5q32 Charcot-Marie-Tooth disease, type 4C AR 3 601596 SH3TC2 608206
6p21.31 Charcot-Marie-Tooth disease, demyelinating, type 1J AD 3 620111 ITPR3 147267
6q21 Charcot-Marie-Tooth disease, type 4J AR 3 611228 FIG4 609390
7p14.3 Charcot-Marie-Tooth disease, type 2D AD 3 601472 GARS1 600287
7q11.23 Charcot-Marie-Tooth disease, axonal, type 2F AD 3 606595 HSPB1 602195
8p21.2 Charcot-Marie-Tooth disease, type 2E AD 3 607684 NEFL 162280
8p21.2 Charcot-Marie-Tooth disease, type 1F AD, AR 3 607734 NEFL 162280
8p21.2 Charcot-Marie-Tooth disease, dominant intermediate G AD 3 617882 NEFL 162280
8q13-q23 Charcot-Marie-Tooth disease, axonal, type 2H AR 2 607731 CMT2H 607731
8q21.11 {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} AD, AR 3 607831 JPH1 605266
8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K AD, AR 3 607831 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, type 4A AR 3 214400 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, recessive intermediate, A AR 3 608340 GDAP1 606598
8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis AR 3 607706 GDAP1 606598
8q21.13 Charcot-Marie-Tooth disease, demyelinating, type 1G AD 3 618279 PMP2 170715
8q24.22 Charcot-Marie-Tooth disease, type 4D AR 3 601455 NDRG1 605262
9p13.3 Charcot-Marie-Tooth disease, type 2Y AD 3 616687 VCP 601023
9q33.3-q34.11 Charcot-Marie-Tooth disease, axonal, type 2P AD, AR 3 614436 LRSAM1 610933
9q34.2 Charcot-Marie-Tooth disease, type 4K AR 3 616684 SURF1 185620
10p14 ?Charcot-Marie-Tooth disease, axonal, type 2Q AD 3 615025 DHTKD1 614984
10q21.3 Hypomyelinating neuropathy, congenital, 1 AD, AR 3 605253 EGR2 129010
10q21.3 Charcot-Marie-Tooth disease, type 1D AD 3 607678 EGR2 129010
10q21.3 Dejerine-Sottas disease AD, AR 3 145900 EGR2 129010
10q22.1 Neuropathy, hereditary motor and sensory, Russe type AR 3 605285 HK1 142600
10q24.32 Charcot-Marie-Tooth disease, axonal, type 2GG AD 3 606483 GBF1 603698
10q26.11 Charcot-Marie-Tooth disease, axonal, type 2JJ AD 3 621095 BAG3 603883
11p15.4 Charcot-Marie-Tooth disease, type 4B2 AR 3 604563 SBF2 607697
11q13.3 Charcot-Marie-Tooth disease, axonal, type 2S AR 3 616155 IGHMBP2 600502
11q21 Charcot-Marie-Tooth disease, type 4B1 AR 3 601382 MTMR2 603557
12p11.21 Charcot-Marie-Tooth disease, type 4H AR 3 609311 FGD4 611104
12q13.3 Charcot-Marie-Tooth disease, axonal, type 2U AD 3 616280 MARS1 156560
12q23.3 Charcot-Marie-Tooth disease, demyelinating, type 1I AD 3 619742 POLR3B 614366
12q24.11 Hereditary motor and sensory neuropathy, type IIc AD 3 606071 TRPV4 605427
12q24.23 Charcot-Marie-Tooth disease, axonal, type 2L AD 3 608673 HSPB8 608014
12q24.31 Charcot-Marie-Tooth disease, recessive intermediate D AR 3 616039 COX6A1 602072
14q32.12 Charcot-Marie-Tooth disease, demyelinating, type 1H AD 3 619764 FBLN5 604580
14q32.31 Charcot-Marie-Tooth disease, axonal, type 2O AD 3 614228 DYNC1H1 600112
14q32.33 Charcot-Marie-Tooth disease, dominant intermediate E AD 3 614455 INF2 610982
15q14 Charcot-Marie-Tooth disease, axonal, type 2II AD 3 620068 SLC12A6 604878
15q21.1 Charcot-Marie-Tooth disease, axonal, type 2X AR 3 616668 SPG11 610844
16p13.13 Charcot-Marie-Tooth disease, type 1C AD 3 601098 LITAF 603795
16q22.1 Charcot-Marie-Tooth disease, axonal, type 2N AD 3 613287 AARS1 601065
16q23.1 ?Charcot-Marie-Tooth disease, recessive intermediate, B AR 3 613641 KARS1 601421
17p12 Charcot-Marie-Tooth disease, type 1A AD 3 118220 PMP22 601097
17p12 Dejerine-Sottas disease AD, AR 3 145900 PMP22 601097
17p12 Charcot-Marie-Tooth disease, type 1E AD 3 118300 PMP22 601097
17q21.2 ?Charcot-Marie-Tooth disease, axonal, type 2V AD 3 616491 NAGLU 609701
19p13.2 Charcot-Marie-Tooth disease, dominant intermediate B AD 3 606482 DNM2 602378
19p13.2 Charcot-Marie-Tooth disease, axonal type 2M AD 3 606482 DNM2 602378
19q13.2 Charcot-Marie-Tooth disease, type 4F AR 3 614895 PRX 605725
19q13.2 Dejerine-Sottas disease AD, AR 3 145900 PRX 605725
19q13.33 ?Charcot-Marie-Tooth disease, type 2B2 AR 3 605589 PNKP 605610
20p12.2 Charcot-Marie-Tooth disease, axonal, type 2HH AD 3 619574 JAG1 601920
22q12.2 Charcot-Marie-Tooth disease, axonal, type 2CC AD 3 616924 NEFH 162230
22q12.2 Charcot-Marie-Tooth disease, axonal, type 2Z AD 3 616688 MORC2 616661
22q13.33 Charcot-Marie-Tooth disease, type 4B3 AR 3 615284 SBF1 603560
Xp22.2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 XLR 2 302801 CMTX2 302801
Xp22.11 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 XLD 3 300905 PDK3 300906
Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 XLD 3 302800 GJB1 304040
Xq22.3 Charcot-Marie-Tooth disease, X-linked recessive, 5 XLR 3 311070 PRPS1 311850
Xq26 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 XLR 4 302802 CMTX3 302802
Xq26.1 Cowchock syndrome XLR 3 310490 AIFM1 300169
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ICD+
SNOMEDCT: 717010007
ORPHA: 99937
DO: 0110182
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4:
# 617383. AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2
Cytogenetic location: 12q24.11
Matching terms: 617383
► 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
12q24.11 ?Avascular necrosis of femoral head, primary, 2 617383 AD 3 TRPV4 605427
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Avascular necrosis of femoral head, primary - PS608805 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
12q13.11 Avascular necrosis of the femoral head AD 3 608805 COL2A1 120140
12q24.11 ?Avascular necrosis of femoral head, primary, 2 AD 3 617383 TRPV4 605427
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Links
Testing
GTR
EuroGentest
Clinical Resources
Clinical Trials
EuroGentest
Gene Reviews
GTR
OrphaNet
Animal Models
OMIA
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ICD+
ORPHA: 86820
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5:
# 156530. METATROPIC DYSPLASIA; MTD
Cytogenetic location: 12q24.11
Matching terms: 156530
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.11 Metatropic dysplasia 156530 AD 3 TRPV4 605427
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ICD+
SNOMEDCT: 22764001
ORPHA: 2635
DO: 0111514
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6:
# 600175. NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8
Cytogenetic location: 12q24.11
Matching terms: 600175
► 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
12q24.11 Neuronopathy, distal hereditary motor, autosomal dominant 8 600175 AD 3 TRPV4 605427
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Neuronopathy, distal hereditary motor, autosomal dominant - PS182960 - 15 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p23.3 Neuronopathy, distal hereditary motor, autosomal dominant 10 AD 3 620080 EMILIN1 130660
2p13.1 Neuronopathy, distal hereditary motor, autosomal dominant 14 AD 3 607641 DCTN1 601143
2p11.2 ?Neuronopathy, distal hereditary motor, autosomal dominant 12 AD 3 614751 REEP1 609139
2q12.3 Neuronopathy, distal hereditary motor, autosomal dominant 7 AD 3 158580 SLC5A7 608761
5q11.2 ?Neuronopathy, distal hereditary motor, autosomal dominant 4 AD 3 613376 HSPB3 604624
5q32 Neuronopathy, distal hereditary motor, autosomal dominant 6 AD 3 615575 FBXO38 608533
7p14.3 Neuronopathy, distal hereditary motor, autosomal dominant 5 AD 3 600794 GARS1 600287
7q11.23 Neuronopathy, distal hereditary motor, autosomal dominant 3 AD 3 608634 HSPB1 602195
7q34-q36 Neuronopathy, distal hereditary motor, autosomal dominant 1 AD 4 182960 HMND1 182960
9q34.11 Neuronopathy, distal hereditary motor, autosomal dominant 11 AD 3 620528 SPTAN1 182810
10q26.11 ?Neuronopathy, distal hereditary motor, autosomal dominant 15 AD 3 621094 BAG3 603883
11q12.3 Neuronopathy, distal hereditary motor, autosomal dominant 13 AD 3 619112 BSCL2 606158
12q24.11 Neuronopathy, distal hereditary motor, autosomal dominant 8 AD 3 600175 TRPV4 605427
12q24.23 Neuronopathy, distal hereditary motor, autosomal dominant 2 AD 3 158590 HSPB8 608014
14q32.2 Neuronopathy, distal hereditary motor, autosomal dominant 9 AD 3 617721 WARS1 191050
▲ Close
ICD+
SNOMEDCT: 763067000
ORPHA: 1216
DO: 0111215
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7:
# 168400. PARASTREMMATIC DWARFISM
Cytogenetic location: 12q24.11
Matching terms: 168400
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.11 Parastremmatic dwarfism 168400 AD 3 TRPV4 605427
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ICD+
SNOMEDCT: 722210007
ORPHA: 2646
DO: 0111539
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8:
# 181405. SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
Cytogenetic location: 12q24.11
Matching terms: 181405
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.11 Scapuloperoneal spinal muscular atrophy 181405 AD 3 TRPV4 605427
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ICD+
SNOMEDCT: 230248006
ICD10CM: G12.1
ORPHA: 431255
DO: 0111552
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9:
# 184095. SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
Cytogenetic location: 12q24.11
Matching terms: 184095
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.11 SED, Maroteaux type 184095 AD 3 TRPV4 605427
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ICD+
SNOMEDCT: 719204007
ORPHA: 263482
DO: 0111553
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10:
# 184252. SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
Cytogenetic location: 12q24.11
Matching terms: 184252
► 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
12q24.11 Spondylometaphyseal dysplasia, Kozlowski type 184252 AD 3 TRPV4 605427
▲ Close
ICD+
SNOMEDCT: 111304003
ORPHA: 93314
DO: 0111554
▲ Close

« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 113500 156530 168400 181405 184095 184252 600175 605427 606071 606835 606845 617383 (Search in: MIM number)
Results: 12 entries.

1:
# 113500. BRACHYOLMIA TYPE 3; BCYM3
Cytogenetic location: 12q24.11
Matching terms: 113500

2:
* 605427. TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:109,783,087-109,833,398
Matching terms: 605427

3:
# 606071. HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
Cytogenetic location: 12q24.11
Matching terms: 606071

4:
# 617383. AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2
Cytogenetic location: 12q24.11
Matching terms: 617383

5:
# 156530. METATROPIC DYSPLASIA; MTD
Cytogenetic location: 12q24.11
Matching terms: 156530

6:
# 600175. NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8
Cytogenetic location: 12q24.11
Matching terms: 600175

7:
# 168400. PARASTREMMATIC DWARFISM
Cytogenetic location: 12q24.11
Matching terms: 168400

8:
# 181405. SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
Cytogenetic location: 12q24.11
Matching terms: 181405

9:
# 184095. SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
Cytogenetic location: 12q24.11
Matching terms: 184095

10:
# 184252. SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
Cytogenetic location: 12q24.11
Matching terms: 184252


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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