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Standards Ontologies Notations
geleophysic dysplasia 2

Summary
Synonym
  • GPHYSD2
Definition
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
Super Class
autosomal dominant disease geleophysic dysplasia
External Links
Disease Ontology
DOID:0111726
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2200 FBN1 fibrillin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14118 Fbn1 fibrillin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
176076 fbn-1 EGF-like domain-containing protein
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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

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Last updated: August 19, 2024