CLOUSTON SYNDROME
ECTD2
http://purl.bioontology.org/ontology/OMIM/129500
ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY
CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA
ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE
HED2, FORMERLY
C0162361
13q12
CX30
DFNA3B
HED2
GJB6
DFNB1B
http://purl.bioontology.org/ontology/OMIM/MTHU018466
http://purl.bioontology.org/ontology/OMIM/MTHU018464
http://purl.bioontology.org/ontology/OMIM/MTHU036374
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU018474
http://purl.bioontology.org/ontology/OMIM/MTHU018475
http://purl.bioontology.org/ontology/OMIM/MTHU018465
http://purl.bioontology.org/ontology/OMIM/MTHU036378
http://purl.bioontology.org/ontology/OMIM/MTHU036409
http://purl.bioontology.org/ontology/OMIM/MTHU018473
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU018467
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU018468
http://purl.bioontology.org/ontology/OMIM/MTHU002944
http://purl.bioontology.org/ontology/OMIM/MTHU013230
http://purl.bioontology.org/ontology/OMIM/MTHU036696
http://purl.bioontology.org/ontology/OMIM/MTHU002738
http://purl.bioontology.org/ontology/OMIM/MTHU018471
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU018470
http://purl.bioontology.org/ontology/OMIM/MTHU014108
http://purl.bioontology.org/ontology/OMIM/MTHU018472
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU014107
http://purl.bioontology.org/ontology/OMIM/MTHU006062
http://purl.bioontology.org/ontology/OMIM/MTHU018469
Phenotype description, molecular basis known.
129500
3
pound
Complete penetrance with variable expressivity [MISCELLANEOUS]
Caused by mutations in the gap junction protein, beta-6 gene (GJB6, 604418.0002) [MOLECULAR BASIS]
T047