trichothiodystrophy 3, photosensitive

human disease
rdfs:label "trichothiodystrophy 3, photosensitive"@en
skos:altLabel "TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE"@en
"TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3"@en
"TTD3"@en
"Trichothiodystrophy, Complementation Group a"@en
"photosensitive trichothiodystrophy 3"@en
schema:description
"human disease"@en
schema:dateModified "2026-07-03T13:21:58+00:00"^^xsd:dateTime
schema:version 2513438179
wikibase:identifiers 5
wikibase:sitelinks 0
wikibase:statements 13
p:P11430 wd:statement/Q55784902-d1b2042d-4a02-8c74-5162-5bde961da3a4
p:P1748 wd:statement/Q55784902-92717303-4431-b7ae-f170-0c874af97132
p:P2293 wd:statement/Q55784902-41826827-CAB3-45C2-B9D1-943537CE9539
p:P279 wd:statement/Q55784902-941efc0b-4058-11a5-1a72-857095d896dc
wd:statement/Q55784902-A6702A3F-FF1F-4379-9930-7EECFE3DD8AD
wd:statement/Q55784902-B199A025-9351-465B-A6B3-D83D83C8B6CF
p:P2888 wd:statement/Q55784902-090D2F28-CD1B-47DB-A6C0-D26FE7D4B879
wd:statement/Q55784902-FDBB0518-97FF-405C-AC60-E912335C36B1
p:P2892 wd:statement/Q55784902-894F99CD-0A1E-44B2-A6EA-A6C4039F9998
p:P31 wd:statement/Q55784902-21EA9C38-A3DE-4D5C-9B21-07D57BA2E82C
p:P492 wd:statement/Q55784902-3DC2CDC9-5F41-49B9-B869-D171DA51ED8A
p:P5270 wd:statement/Q55784902-0D8EC280-9D11-41FF-8377-CF4EF13F7716
p:P699 wd:statement/Q55784902-8DCD76AF-8D02-4790-907D-DA9BF4B9BB0B
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0014619>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0111871>
wdt:P11430 "DI-04434"
wdt:P1748 "C173099"
wdt:P2293 GTF2H5
wdt:P279 autosomal recessive disease
trichothiodystrophy syndromes
developmental defect during embryogenesis
wdt:P2888 <http://identifiers.org/doid/DOID:0111871>
<http://purl.obolibrary.org/obo/DOID_0111871>
wdt:P2892 "C4017171"
wdt:P31 type of disease
wdt:P492 "616395"
wdt:P5270 "MONDO_0014619"
wdt:P699 "DOID:0111871"
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