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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:chromosomal disorder
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Accession:EFO:MONDO:0019040 term browser browse the term
Definition:Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Synonyms:exact_synonym: chromosomal disease;   chromosomal disorders;   chromosome disorder;   disorders, chromosome
 related_synonym: autosomal chromosome disorder;   autosomal chromosome disorders;   chromosome abnormality disorder;   chromosome abnormality disorders
 alt_id: MONDO:0019040
 xref: DOID:0080014;   ICD10CM:Q90-Q99;   ICD9:758.89;   MEDGEN:3441;   MESH:D025063;   NANDO:1100014;   NANDO:2100279;   NANDO:2100280;   NCI:C34470;   ORDO:68335;   SCTID:409709004;   UMLS:C0008626
 external_ontology: in_taxon EFO:NCBITaxon:9606


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          chromosomal disorder 0
            Bloom syndrome 0
            Prader-Willi syndrome + 0
            Silver-Russell syndrome + 0
            aneuploidy + 0
            autosomal anomaly + 0
            chromosome 1p36 deletion syndrome, proximal 0
            duplication/inversion 15q11 0
            gonosome anomaly + 0
            mosaic variegated aneuploidy syndrome + 0
            polyploidy + 0
            ring chromosome disorder + 0
            syndrome caused by partial chromosomal deletion + 0
            syndrome caused by partial chromosomal duplication + 0
            uniparental disomy + 0
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