Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Rothmund-Thomson Syndrome Type 2
Synonyms
Definitions	Rothmund-Thomson syndrome characterized by the presence of RECQL4 gene mutations.
ID	http://purl.obolibrary.org/obo/NCIT_C178827
code	C178827
definition	Rothmund-Thomson syndrome characterized by the presence of RECQL4 gene mutations.
label	Rothmund-Thomson Syndrome Type 2
NCI_META_CUI	CL1386143
Preferred_Name	Rothmund-Thomson Syndrome Type 2
prefixIRI	NCIT:C178827
prefLabel	Rothmund-Thomson Syndrome Type 2
Semantic_Type	Disease or Syndrome
subClassOf	http://purl.obolibrary.org/obo/NCIT_C3335

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016369	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18930	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016369	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0016369	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016369	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_221016	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1003923009	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/268400	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178827	NCIT	LOOM