trichorhinophalangeal syndrome type II

Summary
Synonym
  • Langer-Giedion syndrome
  • Trichorhinophalangeal dysplasia type II
  • trichorhinophalangeal syndrome type 2
Definition
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:4998
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2131 EXT1 exostosin glycosyltransferase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q16394 Exostosin-1
The Human Phenotype Ontology
Displaying entries 21 - 30 of 38 in total
HPO ID HPO Term
HP:0002002 Deep philtrum
HP:0000343 Long philtrum
HP:0005743 Avascular necrosis of the capital femoral epiphysis
HP:0001249 Intellectual disability
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand
HP:0000414 Bulbous nose
HP:0002750 Delayed skeletal maturation
HP:0000164 Abnormality of the dentition
HP:0001385 Hip dysplasia
HP:0030680 Abnormal cardiovascular system morphology
Displaying 1 entry
Gene ID Gene Symbol Description
2131 EXT1 exostosin glycosyltransferase 1

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