Preferred Name

Trisomy

Synonyms
Definitions

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.

ID

http://purl.obolibrary.org/obo/NCIT_C3421

ALT_DEFINITION

The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome).

code

C3421

definition

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.

label

Trisomy

Legacy Concept Name

Trisomy

Preferred_Name

Trisomy

prefixIRI

NCIT:C3421

prefLabel

Trisomy

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C0041107

subClassOf

http://purl.obolibrary.org/obo/NCIT_C2873

http://purl.obolibrary.org/obo/NCIT_C36331

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0700065 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0700065 EFO LOOM
http://purl.obolibrary.org/obo/PATO_0001389 MS LOOM
http://purl.jp/bio/4/id/200906032169338871 IOBC LOOM
http://purl.bioontology.org/ontology/SNMI/M-61040 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038848 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.175.183.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1260-6489 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014314 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12586 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0015152 OMIT LOOM
https://pat.nichd.nih.gov/patgeneticvariance/GV.02.02.03 PATGV LOOM
http://www.projecthalo.com/aura#Trisomy AURA LOOM
http://purl.org/obo/owl/PATO#PATO_0001389 HUPSON LOOM
http://purl.org/obo/owl/PATO#PATO_0001389 BIOMODELS LOOM
http://purl.obolibrary.org/obo/GSSO_007060 GSSO LOOM
http://purl.obolibrary.org/obo/VariO_0207 VARIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.700.131.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.210.050.750 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0700065 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78989007 SNOMEDCT LOOM
http://doe-generated-ontology.com/OntoAD#C0041107 ONTOAD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.175.050.750 RH-MESH LOOM
http://purl.obolibrary.org/obo/MP_0004027 MP LOOM
http://purl.obolibrary.org/obo/MP_0004027 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0004027 CHIRO LOOM
http://purl.bioontology.org/ontology/MESH/D014314 MESH LOOM
http://purl.obolibrary.org/obo/PATO_0001389 PDRO LOOM
http://purl.obolibrary.org/obo/PATO_0001389 PATO LOOM
http://purl.obolibrary.org/obo/PATO_0001389 NIFDYS LOOM
http://purl.obolibrary.org/obo/PATO_0001389 HHEAR LOOM
http://purl.obolibrary.org/obo/PATO_0001389 NIFSTD LOOM
http://purl.obolibrary.org/obo/PATO_0001389 FLOPO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3421 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0041107 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.210.182.500 RH-MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Trisomy APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Trisomy APAONTO LOOM