Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 9

Term ID
DOID:0061024
Synonyms
  • TTD9
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 homozygous mutation in the MARS1 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/33909043/
References
Ontology
Human Disease   ( DOID:0061024 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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