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MIRAGE
3MC syndrome 2

Summary
Definition
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
Super Class
3MC syndrome
Disease Ontology
DOID:0060576
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
78989 COLEC11 collectin subfamily member 11
The Human Phenotype Ontology
Displaying entries 51 - 53 of 53 in total
HPO ID HPO Term
HP:0002996 Limited elbow movement
HP:0000289 Broad philtrum
HP:0000047 Hypospadias
Displaying all 3 entries
Gene ID Gene Symbol Description
10584 COLEC10 collectin subfamily member 10
5648 MASP1 MBL associated serine protease 1
78989 COLEC11 collectin subfamily member 11
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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: April 7, 2025