National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Trichothiodystrophy 4, Nonphotosensitive
Synonyms	Trichothiodystrophy 4, Nonphotosensitive
Definitions	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146899
code	C146899
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source	Cellosaurus
DEFINITION	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
FULL_SYN	Trichothiodystrophy 4, Nonphotosensitive
label	Trichothiodystrophy 4, Nonphotosensitive
Preferred_Name	Trichothiodystrophy 4, Nonphotosensitive
prefixIRI	Thesaurus:C146899
Semantic_Type	Disease or Syndrome
UMLS_CUI	C1313961
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4924

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0021013	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021013	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C146899	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/234050	OMIM	LOOM