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Standards Ontologies Notations
blepharocheilodontic syndrome 1

Summary
Definition
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.
Super Class
blepharocheilodontic syndrome
Disease Ontology
DOID:0080345
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
999 CDH1 cadherin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12550 Cdh1 cadherin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
83502 Cdh1 cadherin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
114424 cdh1 cadherin 1, type 1, E-cadherin (epithelial)
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100337618 cdh1.S cadherin 1, type 1 S homeolog Xenopus laevis (African clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024