MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandtotal autosomal trisomy (MONDO:0020051)
..Starting node
..expandmosaic trisomy 16 ()

       Child Nodes:



 Sister Nodes: 
..expanddown syndrome ()
..expandmosaic trisomy 1 ()
..expandmosaic trisomy 10 ()
..expandmosaic trisomy 12 ()
..expandmosaic trisomy 14 ()
..expandmosaic trisomy 15 ()
..expandmosaic trisomy 16 ()
..expandmosaic trisomy 17 ()
..expandmosaic trisomy 2 ()
..expandmosaic trisomy 20 ()
..expandmosaic trisomy 22 ()
..expandmosaic trisomy 3 ()
..expandmosaic trisomy 4 ()
..expandmosaic trisomy 5 ()
..expandmosaic trisomy 7 ()
..expandmosaic trisomy 8 ()
..expandmosaic trisomy 9 ()
..expandtrisomy 13 ()
..expandtrisomy 18 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15729
Name:mosaic trisomy 16
Definition:Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:Mosaic trisomy chromosome 16; Mosaic trisomy type 16; trisomy 16 mosaicism
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal