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distal trisomy 20q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019888

Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. [ Orphanet:96107 ]

Synonyms: trisomy 20qter distal trisomy type 20q distal duplication 20q telomeric duplication 20q

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:764500002 (MONDO:equivalentTo)
  • Orphanet:96107 (MONDO:equivalentTo)
  • UMLS:C4706935 (MONDO:equivalentTo)
  • MEDGEN:1636588 (MONDO:equivalentTo)
  • GARD:19321 (MONDO:GARD)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

exactMatch

http://identifiers.org/snomedct/764500002

http://www.orpha.net/ORDO/Orphanet_96107

http://identifiers.org/medgen/1636588

http://linkedlifedata.com/resource/umls/id/C4706935

id

MONDO:0019888