Nonphotosensitive Trichothiodystrophy 7
Disease ID: disease_node_19258
Connections displayed (default: 10).
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| Dbxref | MIM:618546 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111867 |
| Data Source | DOID |
| Synonyms | TTD7 |
| Doid Label | nonphotosensitive trichothiodystrophy 7 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19258 |
| Doid Id | DOID_0111870 |
| Label | Nonphotosensitive Trichothiodystrophy 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Nonphotosensitive Trichothiodystrophy(ID:disease_node_19255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)