Entry Search - 129500 604418 - OMIM
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Search: '129500 604418 (Search in: MIM number)'
Results: 2 entries.

1:
* 604418. GAP JUNCTION PROTEIN, BETA-6; GJB6
Cytogenetic location: 13q12.11, Genomic coordinates (GRCh38): 13:20,221,962-20,232,319
Matching terms: 604418
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
13q12.11 Deafness, autosomal dominant 3B 612643 AD 3
Deafness, autosomal recessive 1B 612645 AR 3
Deafness, digenic GJB2/GJB6 220290 AR, DD 3
Ectodermal dysplasia 2, Clouston type 129500 AD 3
ICD+
SNOMEDCT: 54209007

2:
# 129500. CLOUSTON SYNDROME
Cytogenetic location: 13q12.11
Matching terms: 129500
 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
13q12.11 Ectodermal dysplasia 2, Clouston type 129500 AD 3 GJB6 604418
Ectodermal dysplasia (select examples) - PS305100 - 18 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p36.11 ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type AD 3 617337 KDF1 616758
1q42.3-q43 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive AR 3 614941 EDARADD 606603
1q42.3-q43 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant AD 3 614940 EDARADD 606603
2q13 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant AD 3 129490 EDAR 604095
2q13 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive AR 3 224900 EDAR 604095
2q35 Ectodermal dysplasia 16 (odontoonychodermal dysplasia) AR 3 257980 WNT10A 606268
4p16.2 Ectodermal dysplasia 3, Witkop type AD 3 189500 MSX1 142983
10q24.32-q25.1 Ectodermal dysplasia 5, hair/nail type AR 2 614927 ECTD5 614927
11q13.1 ?Ectodermal dysplasia 15, hypohidrotic/hair type AR 3 618535 CST6 601891
12q13.13 Ectodermal dysplasia 4, hair/nail type AR 3 602032 KRT85 602767
12q13.13 ?Ectodermal dysplasia 7, hair/nail type AR 3 614929 KRT74 608248
12q13.13 Ectodermal dysplasia 9, hair/nail type AR 3 614931 HOXC13 142976
13q12.11 Ectodermal dysplasia 2, Clouston type AD 3 129500 GJB6 604418
17p12-q21.2 Ectodermal dysplasia 6, hair/nail type AR 2 614928 ECTD6 614928
18q22.1-q22.3 Ectodermal dysplasia 8, hair/tooth/nail type AR 2 602401 ECTD8 602401
21q22.3 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis AR 3 618180 TSPEAR 612920
22q12.1 Ectodermal dysplasia 13, hair/tooth type AR 3 617392 KREMEN1 609898
Xq13.1 Ectodermal dysplasia 1, hypohidrotic, X-linked XLR 3 305100 EDA 300451
ICD+
SNOMEDCT: 54209007
ORPHA: 189
DO: 14693
Search: 129500 604418 (Search in: MIM number)
Results: 2 entries.

1:
* 604418. GAP JUNCTION PROTEIN, BETA-6; GJB6
Cytogenetic location: 13q12.11, Genomic coordinates (GRCh38): 13:20,221,962-20,232,319
Matching terms: 604418

2:
# 129500. CLOUSTON SYNDROME
Cytogenetic location: 13q12.11
Matching terms: 129500