Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Muir-Torre Syndrome
Synonyms
Definitions

A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.
ID

http://purl.obolibrary.org/obo/NCIT_C84905
code

C84905
Contributing_Source

Cellosaurus
definition

A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.
in_subset

http://purl.obolibrary.org/obo/NCIT_C165258
label

Muir-Torre Syndrome
Preferred_Name

Muir-Torre Syndrome
prefixIRI

NCIT:C84905
prefLabel

Muir-Torre Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1321489
subClassOf

http://purl.obolibrary.org/obo/NCIT_C35561
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http://purl.obolibrary.org/obo/MONDO_0008018 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008018 EFO LOOM
http://purl.obolibrary.org/obo/DERMO_0000609 DERMO LOOM
http://purl.bioontology.org/ontology/MESH/D055653 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050465 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063042 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15172 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.794.712.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008018 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008018 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/158320 OMIM LOOM
http://identifiers.org/omim/158320 REXO LOOM
http://identifiers.org/omim/158320 GEXO LOOM
http://identifiers.org/omim/158320 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.250.500.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.250.500.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036758 PMAPP-PMO LOOM
http://id.nlm.nih.gov/mesh/D055653 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055653 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0026407 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84905 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.610 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050465 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050465 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050465 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050465 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050465 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.805.578.500 RH-MESH LOOM
http://www.gamuts.net/entity#Muir_Torre_syndrome GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.882.712.500 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_543 HRDO LOOM
http://purl.obolibrary.org/obo/OMIM_158320 CCO LOOM
http://purl.jp/bio/4/id/200906027645640774 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_587 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C1321489 OCHV LOOM