MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

MVA SYNDROME

http://purl.bioontology.org/ontology/OMIM/257300

MVA SYNDROME

MVA1

C1850343

15q15

BUB1B

BUBR1

MVA1

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU003988

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU010508

http://purl.bioontology.org/ontology/OMIM/MTHU010506

http://purl.bioontology.org/ontology/OMIM/MTHU008966

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU010516

http://purl.bioontology.org/ontology/OMIM/MTHU010514

http://purl.bioontology.org/ontology/OMIM/MTHU010518

http://purl.bioontology.org/ontology/OMIM/MTHU010512

http://purl.bioontology.org/ontology/OMIM/MTHU010510

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU010520

http://purl.bioontology.org/ontology/OMIM/MTHU010524

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU005340

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU003772

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU006873

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU067762

http://purl.bioontology.org/ontology/OMIM/MTHU003365

http://purl.bioontology.org/ontology/OMIM/MTHU010515

http://purl.bioontology.org/ontology/OMIM/MTHU010513

http://purl.bioontology.org/ontology/OMIM/MTHU010519

http://purl.bioontology.org/ontology/OMIM/MTHU000807

http://purl.bioontology.org/ontology/OMIM/MTHU010509

http://purl.bioontology.org/ontology/OMIM/MTHU036334

http://purl.bioontology.org/ontology/OMIM/MTHU007289

http://purl.bioontology.org/ontology/OMIM/MTHU010507

http://purl.bioontology.org/ontology/OMIM/MTHU037208

http://purl.bioontology.org/ontology/OMIM/MTHU010525

http://purl.bioontology.org/ontology/OMIM/MTHU010523

http://purl.bioontology.org/ontology/OMIM/MTHU010517

http://purl.bioontology.org/ontology/OMIM/MTHU010511

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000264

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU002507

http://purl.bioontology.org/ontology/OMIM/MTHU010521

Phenotype description, molecular basis known.

257300

3

pound

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

Variable phenotype [MISCELLANEOUS]

Heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (PCS, 176430) [MISCELLANEOUS]

Caused by mutation in the BUB1 mitotic checkpoint serine/threonine kinase B gene (BUB1B, 602860.0003) [MOLECULAR BASIS]

T047