Visualize Submit Comment
Metadata
ID DOID:0061024
Name nonphotosensitive trichothiodystrophy 9
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/
Xrefs

MIM:619692

Synonyms

TTD9 [EXACT]

Parent Relationships

is_a nonphotosensitive trichothiodystrophy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker