mosaic trisomy 8
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 ]
Term info
- Orphanet:96061 (MONDO:equivalentTo)
- SCTID:717335009 (MONDO:equivalentTo)
- MESH:C537940 (Orphanet:96061/e)
- MedDRA:10053916 (Orphanet:96061/e)
- GARD:0005359 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
http://identifiers.org/meddra/10053916
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.
http://identifiers.org/snomedct/717335009, http://identifiers.org/mesh/C537940, http://purl.obolibrary.org/obo/Orphanet_96061
Warkany syndrome, Mosaic trisomy type 8
trisomy 8 mosaicism, Mosaic trisomy chromosome 8
MONDO:0019867
https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8