chromosomal disorder
MONDO:0019040Mondo
Findings
No curated finding names chromosomal disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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)
Definition from the Mondo Disease Ontology (MONDO:0019040), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (18)
- aneuploidy
- autosomal anomaly
- Bloom syndrome
- chromosome 16q12 duplication syndrome
- chromosome 1p36 deletion syndrome, proximal
- chromosome inversion disorder
- chromosome Xq13 duplication syndrome
- duplication/inversion 15q11
- FRAXD syndrome
- 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
Other names
7 names
Resolves to: chromosomal disorder
- Also called
- chromosomal diseasechromosomal disorderschromosome disorderdisorder, chromosomaldisorder, chromosomedisorders, chromosomaldisorders, chromosome