Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023

Preferred Name	trichothiodystrophy 5, nonphotosensitive
Synonyms	nonphotosensitive trichothiodystrophy caused by mutation in RNF113A TTD5 RNF113A nonphotosensitive trichothiodystrophy trichothiodystrophy 5, nonphotosensitive
Definitions	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
ID	http://purl.obolibrary.org/obo/MONDO_0010495
database_cross_reference	OMIM:300953 DOID:0111868 UMLS:C4225420
definition	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
exactMatch	http://purl.obolibrary.org/obo/DOID_0111868 https://omim.org/entry/300953 http://linkedlifedata.com/resource/umls/id/C4225420
has_exact_synonym	nonphotosensitive trichothiodystrophy caused by mutation in RNF113A RNF113A nonphotosensitive trichothiodystrophy trichothiodystrophy 5, nonphotosensitive
has_related_synonym	TTD5
id	MONDO:0010495
label	trichothiodystrophy 5, nonphotosensitive
notation	MONDO:0010495
prefLabel	trichothiodystrophy 5, nonphotosensitive
treeView	http://purl.obolibrary.org/obo/MONDO_0018053
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018053

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/300953	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM