loading...| Preferred Name |
Trichothiodystrophy Syndromes [Disease/Finding] |
|
| Synonyms |
Trichothiodystrophy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181260 |
|
| altLabel |
Trichothiodystrophy Trichothiodystrophy Syndromes |
|
| cui |
C1955934 |
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| MESH DEFINITION |
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. |
|
| MESH DUI |
D054463 |
|
| MeSH name |
Trichothiodystrophy Syndromes |
|
| MESH UI |
M0505259 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181260 |
|
| NUI |
N0000181260 |
|
| prefLabel |
Trichothiodystrophy Syndromes [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |