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 1 entry
Gene ID Gene Symbol Description Source
9173 IL1RL1 interleukin 1 receptor like 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01638 Interleukin-1 receptor-like 1
The Human Phenotype Ontology
Displaying entries 81 - 85 of 85 in total
HPO ID HPO Term
HP:0010109 Short hallux
HP:0010864 Intellectual disability, severe
HP:0030680 Abnormal cardiovascular system morphology
HP:0100022 Abnormality of movement
HP:0100790 Hernia
Displaying 1 entry
Gene ID Gene Symbol Description
54872 PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

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