photosensitive trichothiodystrophy

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Information
Disease name
photosensitive trichothiodystrophy
Disease ID
DOID:2960
Description
"A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0111866
Cross Reference ID (Disease Ontology)
MESH:D054463
Cross Reference ID (Disease Ontology)
NCI:C4924
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2021_09_01:723551003
Exact Synonym (Disease Ontology)
IBIDS syndrome
Exact Synonym (Disease Ontology)
sulfur-deficient brittle hair syndrome
Exact Synonym (Disease Ontology)
Tay syndrome
Exact Synonym (Disease Ontology)
trichothiodystrophy with congenital ichthyosis
Exact Synonym (Disease Ontology)
TTD-P