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 11 - 20 of 38 in total
HPO ID HPO Term
HP:0002653 Bone pain
HP:0000411 Protruding ear
HP:0009928 Thick nasal alae
HP:0001382 Joint hypermobility
HP:0100777 Exostoses
HP:0001156 Brachydactyly
HP:0005039 Multiple long-bone exostoses
HP:0000252 Microcephaly
HP:0001883 Talipes
HP:0000010 Recurrent urinary tract infections
Displaying 1 entry
Gene ID Gene Symbol Description
2131 EXT1 exostosin glycosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024