3-M syndrome

Summary
Synonym
  • Le Merrer syndrome
  • Miller-McKusick-Malvaux syndrome
  • Yakut short stature syndrome
  • dolichospondylic dysplasia
  • gloomy face syndrome
  • three M syndrome
Definition
A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0060241
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
9820 CUL7 cullin 7
23363 OBSL1 obscurin like cytoskeletal adaptor 1

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 v4.0.0

Last updated: August 19, 2024