Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

CDC73-Related Neoplastic Syndrome
Synonyms
Definitions

A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms.
ID

http://purl.obolibrary.org/obo/NCIT_C178382
code

C178382
Contributing_Source

CCPS
definition

A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms.
in_subset

http://purl.obolibrary.org/obo/NCIT_C177516

http://purl.obolibrary.org/obo/NCIT_C177281
label

CDC73-Related Neoplastic Syndrome
NCI_META_CUI

CL1647853
Preferred_Name

CDC73-Related Neoplastic Syndrome
prefixIRI

NCIT:C178382
prefLabel

CDC73-Related Neoplastic Syndrome
Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C43569
Semantic_Type

Disease or Syndrome
subClassOf

http://purl.obolibrary.org/obo/NCIT_C3266
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