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 21 - 30 of 99 in total
HPO ID HPO Term
HP:0000453 Choanal atresia
HP:0000463 Anteverted nares
HP:0000470 Short neck
HP:0000482 Microcornea
HP:0000486 Strabismus
HP:0000498 Blepharitis
HP:0000501 Glaucoma
HP:0000508 Ptosis
HP:0000518 Cataract
HP:0000527 Long eyelashes
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