Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

aneuploidy
Synonyms

chromosome number anomaly
Definitions

Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.
ID

http://purl.obolibrary.org/obo/MONDO_0700064
creator

https://orcid.org/0000-0002-4142-7153
database_cross_reference

UMLS:C0002938

MESH:D000782

MEDGEN:294

NCIT:C2873
definition

Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.
exactMatch

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

http://linkedlifedata.com/resource/umls/id/C0002938

http://identifiers.org/medgen/294

http://identifiers.org/mesh/D000782
has_exact_synonym

chromosome number anomaly
id

MONDO:0700064
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare
label

aneuploidy
notation

MONDO:0700064
preferred label

aneuploidy
prefLabel

aneuploidy
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0700064 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700064 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700064 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700064 MONDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038845 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/80056000 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C2873 BERO LOOM
https://pat.nichd.nih.gov/patgeneticvariance/GV.02.02 PATGV LOOM
http://purl.obolibrary.org/obo/APO_0000336 APO LOOM
http://purl.obolibrary.org/obo/APO_0000336 UPHENO LOOM
http://purl.obolibrary.org/obo/GSSO_007002 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.210.050 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.175.050 RH-MESH LOOM
http://purl.obolibrary.org/obo/WBPhenotype_0001882 UPHENO LOOM
http://purl.obolibrary.org/obo/WBPhenotype_0001882 WB-PHENOTYPE LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000782 RH-MESH LOOM
http://purl.jp/bio/4/id/200906026444663893 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2873 NCIT LOOM
http://doe-generated-ontology.com/OntoAD#C0002938 ONTOAD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1159 OCHV LOOM
http://www.projecthalo.com/aura#Aneuploidy AURA LOOM
http://purl.obolibrary.org/obo/OMIT_0002190 OMIT LOOM
http://purl.bioontology.org/ontology/LNC/LA19940-8 LOINC LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU059372 OMIM LOOM
http://purl.obolibrary.org/obo/MP_0004024 MP LOOM
http://purl.obolibrary.org/obo/MP_0004024 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0004024 CHIRO LOOM
http://purl.bioontology.org/ontology/CSP/1260-2444 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002938 OCHV LOOM
http://localhost/plosthes.2017-1#7044 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0700064 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0700064 DOVES LOOM
http://purl.obolibrary.org/obo/MESH_D000782 BERO LOOM
rgo:21235 GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D000782 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.700.131 RH-MESH LOOM