trichothiodystrophy syndromes

human disease
rdfs:label
"trichothiodystrophy syndromes"@en
skos:altLabel
"IBIDS syndrome"@en
"Tay syndrome"@en
"Trichothiodystrophy Syndrome"@en
"photosensitive trichothiodystrophy"@en
"sulfur-deficient brittle hair syndrome"@en
"trichothiodystrophy"@en
"trichothiodystrophy with congenital ichthyosis"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-24T00:08:58+00:00"^^xsd:dateTime
schema:version 2560162927
wikibase:identifiers 23
25
wikibase:sitelinks 8
wikibase:statements 48
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D054463>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018053>
p:direct-normalized/P5806 <http://snomed.info/id/723551003>
p:direct-normalized/P6366 <https://makg.org/entity/2780069873>
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<http://id.nlm.nih.gov/mesh/C16.131.831.874>
<http://id.nlm.nih.gov/mesh/C16.320.850.895>
<http://id.nlm.nih.gov/mesh/C17.800.804.874>
<http://id.nlm.nih.gov/mesh/C17.800.827.895>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:2960>
wdt:P11143 "Trichothiodystrophy"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D33364"
wdt:P1550 "33364"
wdt:P1748 "C4924"
wdt:P1995 medical genetics
dermatology
wdt:P2293 ERCC2
ERCC3
AARS1
CARS1
GTF2E2
MARS1
TARS1
RNF113A
MPLKIP
GTF2H5
wdt:P279 trichothiodystrophy
autosomal dominant disease
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:2960>
<http://purl.obolibrary.org/obo/DOID_2960>
<http://www.orpha.net/ORDO/Orphanet_33364>
wdt:P2892 "C0740342"
"C1955934"
wdt:P31 type of disease
rare disease
wdt:P4229 "L67.8"
wdt:P4317 "12109"
wdt:P486 "D054463"
wdt:P492 "601675"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0018053"
wdt:P5806 "723551003"
wdt:P6366 "2780069873"
"2910655568"
wdt:P646 "/m/05f48p7"
wdt:P665 "H00866"
wdt:P672 "C16.131.077.899"
"C16.131.831.874"
"C16.320.850.895"
"C17.800.804.874"
"C17.800.827.895"
wdt:P699 "DOID:2960"
wdt:P7464 "trichothiodystrophy"
wdt:P7807 "1028003819"
"1366758649"
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