Nonphotosensitive Trichothiodystrophy 9
Disease ID: disease_node_19262
Connections displayed (default: 10).
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| Dbxref | MIM:619692 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111867 |
| Data Source | DOID |
| Synonyms | TTD9 |
| Doid Label | nonphotosensitive trichothiodystrophy 9 |
| Doid Description | 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. Only 1 patient has been reported as of 12/17/2024. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19262 |
| Doid Id | DOID_0061024 |
| Label | Nonphotosensitive Trichothiodystrophy 9 |
- 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)