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Standards Ontologies Notations
Coffin-Siris syndrome 6

Summary
Definition
A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
Super Class
Coffin-Siris syndrome
Disease Ontology
DOID:0080297
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
196528 ARID2 AT-rich interaction domain 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
77044 Arid2 AT-rich interaction domain 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
35560 Bap170 Brahma associated protein 170kD
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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