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mosaic trisomy 8

Go to external page http://purl.obolibrary.org/obo/MONDO_0019867

Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. [ Orphanet:96061 ]

Synonyms: Warkany syndrome Mosaic trisomy type 8

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:96061 (MONDO:equivalentTo)
  • MESH:C537940 (Orphanet:96061/e)
  • GARD:5359 (MONDO:GARD)
  • MEDGEN:797340 (MONDO:equivalentTo)
  • SCTID:717335009 (MONDO:equivalentTo)
  • MedDRA:10053916 (Orphanet:96061/e)
  • UMLS:C1096527 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10053916

exactMatch

http://www.orpha.net/ORDO/Orphanet_96061

http://linkedlifedata.com/resource/umls/id/C1096527

http://identifiers.org/snomedct/717335009

http://identifiers.org/mesh/C537940

http://identifiers.org/medgen/797340

has related synonym

trisomy 8 mosaicism

Mosaic trisomy chromosome 8

id

MONDO:0019867

seeAlso

https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8

Term relations

Subclass of: