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mosaic trisomy 9

^ http://purl.obolibrary.org/obo/MONDO_0020490

Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. [ https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 ]

Term info

database cross reference
  • UMLS:CN035918 (MONDO:equivalentTo)
  • GARD:0000043 (MONDO:equivalentTo)
  • SCTID:764989007 (MONDO:equivalentTo)
  • Orphanet:99776 (MONDO:equivalentTo)
  • MESH:C535454 (Orphanet:99776/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_99776, http://linkedlifedata.com/resource/umls/id/CN035918, http://identifiers.org/snomedct/764989007, http://identifiers.org/mesh/C535454

has exact synonym

Mosaic trisomy type 9

has related synonym

Mosaic trisomy chromosome 9, trisomy 9 mosaicism

id

MONDO:0020490

seeAlso

https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9

Term relations