Pediatric Terminology

Last uploaded: January 25, 2013
Preferred Name

Genetic_Disorder
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder

ID

C3101

NCI_Definition

Genetic Diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.

NCI_PT

Genetic Disorder

NICHD_Definition

_

prefixIRI

Genetic_Disorder

prefLabel

Genetic_Disorder

Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology

SYN

Hereditary_Disease

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Disease_or_Disorder

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http://purl.obolibrary.org/obo/NCIT_C3101 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C3101 GSSO LOOM
http://www.ebi.ac.uk/efo/EFO_0000508 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0000508 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0000508 EFO LOOM
http://www.projecthalo.com/aura#Genetic-Disorder AURA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Genetic_Disorder OPE LOOM
http://purl.obolibrary.org/obo/HIO_0000375 HIO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101 NCIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050325 NATPRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 HTN LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 MFOMD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OHD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 NEIO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OCD LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 CVDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 NDDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 PNADO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 VDOT LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 BDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 DDIEM LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 SCDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 SDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 ONSTR LOOM
http://purl.obolibrary.org/obo/OGMS_0000047 OGMS LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_0050325 CLO LOOM