| Metadata | |
|---|---|
| ID | DOID:0111870 | 
| Name | nonphotosensitive trichothiodystrophy 7 | 
| Definition | A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.  https://pubmed.ncbi.nlm.nih.gov/31374204/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         TTD7 [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |