Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CLOUSTON SYNDROME

Synonyms

ECTD2

ID

http://purl.bioontology.org/ontology/OMIM/129500

altLabel

ECTD2

ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT

ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY

CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA

ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE

HED2, FORMERLY

cui

C0162361

Gene Locus

13q12

Gene Symbol

CX30

DFNA3B

HED2

GJB6

DFNB1B

ECTD2

Has manifestation

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

129500

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CLOUSTON SYNDROME

Scope Statement

Complete penetrance with variable expressivity [MISCELLANEOUS]

Caused by mutations in the gap junction protein, beta-6 gene (GJB6, 604418.0002) [MOLECULAR BASIS]

tui

T047

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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D004476 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0726-8244 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D004476 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10073864 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10073859 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10073859 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01104 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10073864 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/54209007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54209007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X50Ha RCD CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10073864 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10073859 MEDDRA CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0162361 OCHV LOOM
http://purl.jp/bio/4/id/200906042384211993 IOBC LOOM
http://purl.obolibrary.org/obo/MONDO_0007510 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007510 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007510 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_14693 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14693 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14693 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14693 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14693 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14693 FNS-H LOOM
http://www.gamuts.net/entity#Clouston_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073859 MEDDRA LOOM