Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
nails hair intellectual development |
| gptkbp:cause |
mutation in ERCC2 gene
mutation in ERCC3 gene mutation in GTF2H5 gene |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
1970s
|
| gptkbp:hair_feature |
low sulfur content
tiger tail banding under polarized light |
| https://www.w3.org/2000/01/rdf-schema#label |
trichothiodystrophy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
601675
|
| gptkbp:symptom |
intellectual disability
short stature photosensitivity ichthyosis brittle hair decreased fertility |
| gptkbp:bfsParent |
gptkb:XPD
|
| gptkbp:bfsLayer |
7
|