Cornelia de Lange syndrome 1

Summary
Definition
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
Super Class
Cornelia de Lange syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0080505
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
414 ARSD arylsulfatase D
8658 TNKS tankyrase
9126 SMC3 structural maintenance of chromosomes 3
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
The Human Phenotype Ontology
Displaying entries 61 - 70 of 99 in total
HPO ID HPO Term
HP:0001956 Truncal obesity
HP:0002020 Gastroesophageal reflux
HP:0002021 Pyloric stenosis
HP:0002119 Ventriculomegaly
HP:0002120 Cerebral cortical atrophy
HP:0002162 Low posterior hairline
HP:0002167 Abnormality of speech or vocalization
HP:0002230 Generalized hirsutism
HP:0002360 Sleep abnormality
HP:0002553 Highly arched eyebrow
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