Online Mendelian Inheritance in Man - TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
Synonyms	ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY TTDP TRICHOTHIODYSTROPHY, PHOTOSENSITIVE PIBIDS SYNDROME TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS TAY SYNDROME TTD1
ID	http://purl.bioontology.org/ontology/OMIM/601675
altLabel	ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY TTDP TRICHOTHIODYSTROPHY, PHOTOSENSITIVE PIBIDS SYNDROME TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS TAY SYNDROME TTD1
cui	C1866505 C1866504
Gene Locus	19q13.2-q13.3
Gene Symbol	EM9 ERCC2 XPD TTD1 COFS2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049575 http://purl.bioontology.org/ontology/OMIM/MTHU000128 http://purl.bioontology.org/ontology/OMIM/MTHU029315 http://purl.bioontology.org/ontology/OMIM/MTHU049579 http://purl.bioontology.org/ontology/OMIM/MTHU049569 http://purl.bioontology.org/ontology/OMIM/MTHU005166 http://purl.bioontology.org/ontology/OMIM/MTHU049160 http://purl.bioontology.org/ontology/OMIM/MTHU002046 http://purl.bioontology.org/ontology/OMIM/MTHU049559 http://purl.bioontology.org/ontology/OMIM/MTHU037251 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU049571 http://purl.bioontology.org/ontology/OMIM/MTHU010279 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU067610 http://purl.bioontology.org/ontology/OMIM/MTHU049562 http://purl.bioontology.org/ontology/OMIM/MTHU049573 http://purl.bioontology.org/ontology/OMIM/MTHU049566 http://purl.bioontology.org/ontology/OMIM/MTHU049563 http://purl.bioontology.org/ontology/OMIM/MTHU049570 http://purl.bioontology.org/ontology/OMIM/MTHU049576 http://purl.bioontology.org/ontology/OMIM/MTHU037985 http://purl.bioontology.org/ontology/OMIM/MTHU049572 http://purl.bioontology.org/ontology/OMIM/MTHU000129 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU067612 http://purl.bioontology.org/ontology/OMIM/MTHU011660 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU049561 http://purl.bioontology.org/ontology/OMIM/MTHU049568 http://purl.bioontology.org/ontology/OMIM/MTHU036373 http://purl.bioontology.org/ontology/OMIM/MTHU049577 http://purl.bioontology.org/ontology/OMIM/MTHU049580 http://purl.bioontology.org/ontology/OMIM/MTHU049578 http://purl.bioontology.org/ontology/OMIM/MTHU049567 http://purl.bioontology.org/ontology/OMIM/MTHU049560 http://purl.bioontology.org/ontology/OMIM/MTHU007900 http://purl.bioontology.org/ontology/OMIM/MTHU049574 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU026401 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU042262 http://purl.bioontology.org/ontology/OMIM/MTHU059134 http://purl.bioontology.org/ontology/OMIM/MTHU003747 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU008785 http://purl.bioontology.org/ontology/OMIM/MTHU067611 http://purl.bioontology.org/ontology/OMIM/MTHU036408 http://purl.bioontology.org/ontology/OMIM/MTHU028324 http://purl.bioontology.org/ontology/OMIM/MTHU000235
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	242170
notation	601675
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
Scope Statement	Caused by mutation in the ERCC excision repair 2, TFIIH core complex helicase subunit gene (ERCC2, 126340.0001) [MOLECULAR BASIS] Skin neoplasia may appear later in life [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C566643	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D054463	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D054463	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0011125	MONDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156433	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011125	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011125	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011125	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C156433	BERO	LOOM