geroderma osteodysplasticum

Summary
Synonym
  • GO
  • Walt Disney dwarfism
  • geroderma osteodysplastica
  • gerodermia osteodysplastica
Definition
A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0111266
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
Related Glycoprotein

About Release Notes Help Feedback

Click here to visit the beta site.


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