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cleidocranial dysplasia

Summary

Synonym

Marie-Sainton Disease
cleidocranial dysostosis

Definition

An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.

Super Class

autosomal dominant disease osteochondrodysplasia

External Links

Disease Ontology

DOID:13994

Mondo Disease Ontology

MeSH

D002973

UMLS

C0008928

NCI Thesaurus

C75020

ORDO

1452

OMIM

GARD

6118

MGI genotype (from TogoID)

WikiPathways (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
10584	COLEC10	collectin subfamily member 10	DisGeNET
11285	B4GALT7	beta-1,4-galactosyltransferase 7	DisGeNET
26229	B3GAT3	beta-1,3-glucuronyltransferase 3	DisGeNET
64131	XYLT1	xylosyltransferase 1	DisGeNET
78989	COLEC11	collectin subfamily member 11	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 13 in total

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UniProt ID	Protein Name	Source
O94766	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	DisGeNET
P05091	Aldehyde dehydrogenase, mitochondrial	DisGeNET
P07911	Uromodulin	DisGeNET
P48740	Mannan-binding lectin serine protease 1	DisGeNET
P54646	5'-AMP-activated protein kinase catalytic subunit alpha-2	DisGeNET
P98160	Basement membrane-specific heparan sulfate proteoglycan core protein	DisGeNET
Q16394	Exostosin-1	DisGeNET
Q7LGC8	Carbohydrate sulfotransferase 3	DisGeNET
Q86Y38	Xylosyltransferase 1	DisGeNET
Q93063	Exostosin-2	DisGeNET