Cornelia de Lange syndrome 2

Summary
Definition
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
Super Class
Cornelia de Lange syndrome X-linked dominant disease
External Links
Disease Ontology
DOID:0080506
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9126 SMC3 structural maintenance of chromosomes 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UQE7 Structural maintenance of chromosomes protein 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 99 in total
HPO ID HPO Term
HP:0000003 Multicystic kidney dysplasia
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000059 Hypoplastic labia majora
HP:0000076 Vesicoureteral reflux
HP:0000083 Renal insufficiency
HP:0000130 Abnormality of the uterus
HP:0000175 Cleft palate
HP:0000218 High palate
HP:0000233 Thin vermilion border
Displaying 1 entry
Gene ID Gene Symbol Description
9126 SMC3 structural maintenance of chromosomes 3

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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: August 19, 2024