Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Trichothiodystrophy 4, Nonphotosensitive
Synonyms
Definitions	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
ID	http://purl.obolibrary.org/obo/NCIT_C146899
code	C146899
Contributing_Source	Cellosaurus
definition	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
in_subset	http://purl.obolibrary.org/obo/NCIT_C165258
label	Trichothiodystrophy 4, Nonphotosensitive
Preferred_Name	Trichothiodystrophy 4, Nonphotosensitive
prefixIRI	NCIT:C146899
prefLabel	Trichothiodystrophy 4, Nonphotosensitive
Semantic_Type	Disease or Syndrome
UMLS_CUI	C1313961
subClassOf	http://purl.obolibrary.org/obo/NCIT_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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146899	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/234050	OMIM	LOOM