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 11 - 20 of 99 in total
HPO ID HPO Term
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
HP:0000294 Low anterior hairline
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000368 Low-set, posteriorly rotated ears
HP:0000400 Macrotia
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000413 Atresia of the external auditory canal
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