Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
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
Wolf-Hirschhorn syndrome

Summary
Synonym
  • 4p deletion syndrome
  • PITT SYNDROME
  • Pitt-Rogers-Danks Syndrome
  • chromosome 4p16.3 deletion syndrome
Definition
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0050460
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
7468 NSD2 nuclear receptor binding SET domain protein 2
53834 FGFRL1 fibroblast growth factor receptor like 1
137994 LETM2 leucine zipper and EF-hand containing transmembrane protein 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
116701 Fgfrl1 fibroblast growth factor receptor-like 1
270035 Letm2 leucine zipper-EF-hand containing transmembrane protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
360903 Fgfrl1 fibroblast growth factor receptor-like 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 85 in total
HPO ID HPO Term
HP:0000268 Dolichocephaly
HP:0000286 Epicanthus
HP:0000288 Abnormality of the philtrum
HP:0000316 Hypertelorism
HP:0000322 Short philtrum
HP:0000347 Micrognathia
HP:0000348 High forehead
HP:0000365 Hearing impairment
HP:0000368 Low-set, posteriorly rotated ears
HP:0000389 Chronic otitis media
Displaying 1 entry
Gene ID Gene Symbol Description
54872 PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
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