autosomal recessive Emery-Dreifuss muscular dystrophy 3

Summary
Synonym
  • EDMD3
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
Super Class
Emery-Dreifuss muscular dystrophy autosomal recessive disease
Disease Ontology
DOID:0070248
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
4001 LMNB1 lamin B1
84823 LMNB2 lamin B2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
16906 Lmnb1 lamin B1
16907 Lmnb2 lamin B2
Displaying 1 entry
Gene ID Gene Symbol Description Source
116685 Lmnb1 lamin B1

About Release Notes Help Feedback

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