JSON

mosaic variegated aneuploidy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0000141

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. [ Orphanet:1052 ]

Term info

database cross reference
  • NCIT:C128192 (MONDO:equivalentTo)
  • OMIMPS:257300 (MONDO:equivalentTo)
  • GARD:0003007 (MONDO:equivalentTo)
  • SCTID:700056005 (MONDO:equivalentTo)
  • ICD9:758.89 (MONDO:relatedTo)
  • MESH:C536987 (Orphanet:1052/e)
  • Orphanet:1052 (OMIM:257300)
  • DOID:0080688 (MONDO:equivalentTo)
  • UMLS:C1850343 (Orphanet:1052/e)
Subsets

ordo_malformation_syndrome

abbreviation
MVA1 [ NCIT:C128192 ]

definition

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

exactMatch

http://identifiers.org/mesh/C536987, http://purl.obolibrary.org/obo/DOID_0080688, https://omim.org/phenotypicSeries/PS257300, http://linkedlifedata.com/resource/umls/id/C1850343, http://identifiers.org/snomedct/700056005, http://purl.obolibrary.org/obo/Orphanet_1052, http://purl.obolibrary.org/obo/NCIT_C128192

has exact synonym

Warburton-Anyane-Yeboa syndrome, Mosaic variegated aneuploidy syndrome 1, MVA1

id

MONDO:0000141