Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 8

Term ID
DOID:0061023
Synonyms
  • TTD8
Definition
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/33909043/
References
Ontology
Human Disease   ( DOID:0061023 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.