trichothiodystrophy

Summary
Synonym
  • TTD
Definition
A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
Super Class
syndrome
External Links
Disease Ontology
DOID:0111866
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16 AARS1 alanyl-tRNA synthetase 1
4141 MARS1 methionyl-tRNA synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
234734 Aars1 alanyl-tRNA synthetase 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