Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
Guidelines
MIRAGE
alopecia-mental retardation syndrome 4

Summary
Definition
An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
Super Class
alopecia-mental retardation syndrome autosomal recessive disease
Disease Ontology
DOID:0080950
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4047 LSS lanosterol synthase
The Human Phenotype Ontology
Displaying entries 31 - 35 of 35 in total
HPO ID HPO Term
HP:0001019 Erythroderma
HP:0002079 Hypoplasia of the corpus callosum
HP:0003577 Congenital onset
HP:0003623 Neonatal onset
HP:0008689 Bilateral cryptorchidism
Displaying 1 entry
Gene ID Gene Symbol Description
4047 LSS lanosterol synthase
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 v4.1.1

Last updated: February 17, 2025