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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
aneuploidy +  
Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.
autosomal anomaly +  
Bloom syndrome 
chromosome 1p36 deletion syndrome, proximal 
duplication/inversion 15q11 
gonosome anomaly +  
mosaic variegated aneuploidy syndrome +  
polyploidy +  
Prader-Willi syndrome +  
ring chromosome disorder +  
Silver-Russell syndrome +  
syndrome caused by partial chromosomal deletion +  
syndrome caused by partial chromosomal duplication +  
uniparental disomy +  

Synonyms
Exact Synonyms: chromosome number anomaly
Alternate IDs: MONDO:0700064
Xrefs: MEDGEN:294 ;   MESH:D000782 ;   NCI:C2873 ;   UMLS:C0002938
Definition Sources: https://orcid.org/0000-0002-4142-7153, NCIT:C2873, PMID:26126276

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