trichorhinophalangeal syndrome type III

Summary
Synonym
  • trichorhinophalangeal syndrome type 3
Definition
A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0080376
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7227 TRPS1 transcriptional repressor GATA binding 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: December 9, 2024