JSON

mosaic trisomy 16

^ http://purl.obolibrary.org/obo/MONDO_0015729

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. [ Orphanet:1708 ]

Term info

database cross reference
  • Orphanet:1708 (MONDO:equivalentTo)
  • SCTID:764621006 (MONDO:equivalentTo)
  • MESH:C538041 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

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.

exactMatch

http://identifiers.org/mesh/C538041, http://identifiers.org/snomedct/764621006, http://purl.obolibrary.org/obo/Orphanet_1708

has exact synonym

Mosaic trisomy chromosome 16, Mosaic trisomy type 16, trisomy 16 mosaicism

id

MONDO:0015729

Term relations