Cornelia de Lange syndrome

Summary
Synonym
  • Brachmann de Lange syndrome
  • De Lange syndrome
Definition
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Super Class
monogenic disease syndrome
Disease Ontology
DOID:11725
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
8243 SMC1A structural maintenance of chromosomes 1A
9126 SMC3 structural maintenance of chromosomes 3
23244 PDS5A PDS5 cohesin associated factor A
25836 NIPBL NIPBL cohesin loading factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
71175 Nipbl NIPBL cohesin loading factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
32627 SMC3 Structural maintenance of chromosomes 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
853371 SMC3 cohesin subunit SMC3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024