Entry Search - 126340 126380 133510 133520 133530 278700 278720 278730 278740 278750 278760 278780 600811 603968 610651 611153 613208 - OMIM
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Search: '126340 126380 133510 133520 133530 278700 278720 278730 278740 278750 278760 278780 600811 603968 610651 611153 613208 (Search in: MIM number)'
Results: 17 entries.
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1:
# 278700. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Cytogenetic location: 9q22.33
Matching terms: 278700
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
9q22.33 Xeroderma pigmentosum, group A 278700 AR 3 XPA 611153
▲ Close
ICD+
SNOMEDCT: 43477006
ORPHA: 910
DO: 0110843
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2:
# 278720. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Cytogenetic location: 3p25.1
Matching terms: 278720
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.1 Xeroderma pigmentosum, group C 278720 AR 3 XPC 613208
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ICD+
SNOMEDCT: 25784009
ORPHA: 910
DO: 0110844
▲ Close

3:
# 278730. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Cytogenetic location: 19q13.32
Matching terms: 278730
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
19q13.32 Xeroderma pigmentosum, group D 278730 AR 3 ERCC2 126340
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ICD+
SNOMEDCT: 68637004
ORPHA: 220295, 910
DO: 0110845
▲ Close

4:
# 278740. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE
Cytogenetic location: 11p11.2
Matching terms: 278740
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
11p11.2 Xeroderma pigmentosum, group E, DDB-negative subtype 278740 AR 3 DDB2 600811
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ICD+
SNOMEDCT: 56048001
ORPHA: 910
DO: 0110846
▲ Close

5:
# 278750. XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
Cytogenetic location: 6p21.1
Matching terms: 278750
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6p21.1 Xeroderma pigmentosum, variant type 278750 AR 3 POLH 603968
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ICD+
ORPHA: 90342
DO: 0110847
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6:
# 278760. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS, INCLUDED
Cytogenetic locations: 16p13.12,
Matching terms: 278760
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.12 Xeroderma pigmentosum, type F/Cockayne syndrome 278760 AR 3 ERCC4 133520
16p13.12 Xeroderma pigmentosum, group F 278760 AR 3 ERCC4 133520
▲ Close
ICD+
SNOMEDCT: 42530008
ORPHA: 220295, 910
DO: 0110848
▲ Close

7:
# 278780. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
Cytogenetic locations: 13q33.1,
Matching terms: 278780
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
13q33.1 Xeroderma pigmentosum, group G 278780 AR 3 ERCC5 133530
13q33.1 Xeroderma pigmentosum, group G/Cockayne syndrome 278780 AR 3 ERCC5 133530
▲ Close
ICD+
SNOMEDCT: 36454001
ORPHA: 1466, 191, 220295, 910
DO: 0110849
▲ Close

8:
# 610651. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED
Cytogenetic location: 2q14.3
Matching terms: 610651
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q14.3 Xeroderma pigmentosum, group B 610651 AR 3 ERCC3 133510
▲ Close
ICD+
SNOMEDCT: 1073003
ORPHA: 220295, 910
DO: 0110850
▲ Close

9:
* 613208. XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Cytogenetic location: 3p25.1, Genomic coordinates (GRCh38): 3:14,145,147-14,178,601
Matching terms: 613208
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3p25.1 Xeroderma pigmentosum, group C 278720 AR 3
▲ Close
ICD+
SNOMEDCT: 25784009
▲ Close

10:
* 126340. ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,349,837-45,370,573
Matching terms: 126340
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19q13.32 ?Cerebrooculofacioskeletal syndrome 2 610756 AR 3
Trichothiodystrophy 1, photosensitive 601675 AR 3
Xeroderma pigmentosum, group D 278730 AR 3
▲ Close
ICD+
SNOMEDCT: 68637004
▲ Close

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Search: 126340 126380 133510 133520 133530 278700 278720 278730 278740 278750 278760 278780 600811 603968 610651 611153 613208 (Search in: MIM number)
Results: 17 entries.

1:
# 278700. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Cytogenetic location: 9q22.33
Matching terms: 278700

2:
# 278720. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Cytogenetic location: 3p25.1
Matching terms: 278720

3:
# 278730. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Cytogenetic location: 19q13.32
Matching terms: 278730

4:
# 278740. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE
Cytogenetic location: 11p11.2
Matching terms: 278740

5:
# 278750. XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
Cytogenetic location: 6p21.1
Matching terms: 278750

6:
# 278760. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS, INCLUDED
Cytogenetic locations: 16p13.12,
Matching terms: 278760

7:
# 278780. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
Cytogenetic locations: 13q33.1,
Matching terms: 278780

8:
# 610651. XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED
Cytogenetic location: 2q14.3
Matching terms: 610651

9:
* 613208. XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Cytogenetic location: 3p25.1, Genomic coordinates (GRCh38): 3:14,145,147-14,178,601
Matching terms: 613208

10:
* 126340. ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,349,837-45,370,573
Matching terms: 126340


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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