Entry Search - 113810 131760 131800 131900 131960 148040 148066 226670 601001 601282 602243 609057 609352 611295 612878 615028 615425 617294 619555 619594 619599 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '113810 131760 131800 131900 131960 148040 148066 226670 601001 601282 602243 609057 609352 611295 612878 615028 615425 617294 619555 619594 619599 (Search in: MIM number)'
Results: 21 entries.
« First  |  ‹ Previous  |  Next ›  |  Last »

1:
# 131760. EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE; EBS1A
Cytogenetic location: 17q21.2
Matching terms: 131760
► 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
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe 131760 AD 3 KRT14 148066
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
SNOMEDCT: 254179000
ORPHA: 79396
DO: 0060735
▲ Close

2:
* 113810. DYSTONIN; DST
Cytogenetic location: 6p12.1, Genomic coordinates (GRCh38): 6:56,457,996-56,954,830
Matching terms: 113810
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency 615425 AR 3
Neuropathy, hereditary sensory and autonomic, type VI 614653 AR 3
▲ Close
ICD+
SNOMEDCT: 1279838005
▲ Close

3:
# 609057. EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS; EBS7
Cytogenetic location: 11p15.5
Matching terms: 609057
► 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
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness 609057 AR 3 CD151 602243
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
ORPHA: 300333
▲ Close

4:
* 611295. KELCH-LIKE 24; KLHL24
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:183,635,623-183,684,519
Matching terms: 611295
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q27.1 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies 620236 AR 3
Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy 617294 AD 3
▲ Close

5:
# 615028. EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE; EBS4
Cytogenetic location: 11q22.3
Matching terms: 615028
► 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
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 615028 AR 3 EXPH5 612878
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
ORPHA: 412189
▲ Close

6:
# 615425. EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
Cytogenetic location: 6p12.1
Matching terms: 615425
► 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
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency 615425 AR 3 DST 113810
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
ORPHA: 412181
DO: 4644
▲ Close

7:
* 148040. KERATIN 5, TYPE II; KRT5
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,514,575-52,520,394
Matching terms: 148040
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q13.13 Dowling-Degos disease 1 179850 AD 3
Epidermolysis bullosa simplex 2A, generalized severe 619555 AD 3
Epidermolysis bullosa simplex 2B, generalized intermediate 619588 AD 3
Epidermolysis bullosa simplex 2C, localized 619594 AD 3
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive 619599 AR 3
Epidermolysis bullosa simplex 2E, with migratory circinate erythema 609352 AD 3
Epidermolysis bullosa simplex 2F, with mottled pigmentation 131960 AD 3
▲ Close
ICD+
SNOMEDCT: 254180002, 716700003
▲ Close

8:
* 148066. KERATIN 14, TYPE I; KRT14
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,582,279-41,586,895
Matching terms: 148066
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q21.2 Dermatopathia pigmentosa reticularis 125595 AD 3
Epidermolysis bullosa simplex 1A, generalized severe 131760 AD 3
Epidermolysis bullosa simplex 1B, generalized intermediate 131900 AD 3
Epidermolysis bullosa simplex 1C, localized 131800 AD 3
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 601001 AR 3
Naegeli-Franceschetti-Jadassohn syndrome 161000 AD 3
▲ Close
ICD+
SNOMEDCT: 239084001, 239088003, 254179000, 294705005
▲ Close

9:
# 131800. EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C
Cytogenetic location: 17q21.2
Matching terms: 131800
► 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
17q21.2 Epidermolysis bullosa simplex 1C, localized 131800 AD 3 KRT14 148066
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
SNOMEDCT: 294705005
ORPHA: 79400
DO: 0080510
▲ Close

10:
# 131900. EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
Cytogenetic location: 17q21.2
Matching terms: 131900
► 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
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate 131900 AD 3 KRT14 148066
▲ Close
Epidermolysis bullosa simplex - PS131760 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
3q27.1 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy AD 3 617294 KLHL24 611295
6p12.1 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency AR 3 615425 DST 113810
8q24.3 Epidermolysis bullosa simplex 5A, Ogna type AD 3 131950 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5C, with pyloric atresia AR 3 612138 PLEC1 601282
8q24.3 Epidermolysis bullosa simplex 5B, with muscular dystrophy AR 3 226670 PLEC1 601282
8q24.3 ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive AR 3 616487 PLEC1 601282
11p15.5 Epidermolysis bullosa simplex 7, with nephropathy and deafness AR 3 609057 CD151 602243
11q22.3 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive AR 3 615028 EXPH5 612878
12q13.13 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive AR 3 619599 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2C, localized AD 3 619594 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2E, with migratory circinate erythema AD 3 609352 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2B, generalized intermediate AD 3 619588 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2F, with mottled pigmentation AD 3 131960 KRT5 148040
12q13.13 Epidermolysis bullosa simplex 2A, generalized severe AD 3 619555 KRT5 148040
17q21.2 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive AR 3 601001 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1B, generalized intermediate AD 3 131900 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1C, localized AD 3 131800 KRT14 148066
17q21.2 Epidermolysis bullosa simplex 1A, generalized severe AD 3 131760 KRT14 148066
▲ Close
ICD+
ORPHA: 79399
DO: 0080511
▲ Close

« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 113810 131760 131800 131900 131960 148040 148066 226670 601001 601282 602243 609057 609352 611295 612878 615028 615425 617294 619555 619594 619599 (Search in: MIM number)
Results: 21 entries.

1:
# 131760. EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE; EBS1A
Cytogenetic location: 17q21.2
Matching terms: 131760

2:
* 113810. DYSTONIN; DST
Cytogenetic location: 6p12.1, Genomic coordinates (GRCh38): 6:56,457,996-56,954,830
Matching terms: 113810

3:
# 609057. EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS; EBS7
Cytogenetic location: 11p15.5
Matching terms: 609057

4:
* 611295. KELCH-LIKE 24; KLHL24
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:183,635,623-183,684,519
Matching terms: 611295

5:
# 615028. EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE; EBS4
Cytogenetic location: 11q22.3
Matching terms: 615028

6:
# 615425. EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
Cytogenetic location: 6p12.1
Matching terms: 615425

7:
* 148040. KERATIN 5, TYPE II; KRT5
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,514,575-52,520,394
Matching terms: 148040

8:
* 148066. KERATIN 14, TYPE I; KRT14
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,582,279-41,586,895
Matching terms: 148066

9:
# 131800. EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C
Cytogenetic location: 17q21.2
Matching terms: 131800

10:
# 131900. EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
Cytogenetic location: 17q21.2
Matching terms: 131900


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.

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