mosaic trisomy 10
http://purl.obolibrary.org/obo/MONDO_0019868
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. [ Orphanet:96063 ]
Term info
- SCTID:764461004 (MONDO:equivalentTo)
- Orphanet:96063 (MONDO:equivalentTo)
- UMLS:CN035866 (MONDO:equivalentTo)
- MESH:C538292 (MONDO:equivalentTo)
- GARD:0005406 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.
http://purl.obolibrary.org/obo/Orphanet_96063, http://identifiers.org/mesh/C538292, http://linkedlifedata.com/resource/umls/id/CN035866, http://identifiers.org/snomedct/764461004
Mosaic trisomy chromosome 10, trisomy 10 mosaicism, mosaic trisomy 10, Mosaic trisomy type 10
chromosome 10, uniparental disomy, uniparental disomy of 10
MONDO:0019868