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distal trisomy 16q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019887

Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. [ Orphanet:96106 ]

Synonyms: telomeric duplication 16q distal trisomy type 16q trisomy 16qter distal duplication 16q

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1633675 (MONDO:equivalentTo)
  • UMLS:C4706934 (MONDO:equivalentTo)
  • Orphanet:96106 (MONDO:equivalentTo)
  • GARD:19320 (MONDO:GARD)
  • SCTID:764459008 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_96106

http://identifiers.org/medgen/1633675

http://linkedlifedata.com/resource/umls/id/C4706934

http://identifiers.org/snomedct/764459008

id

MONDO:0019887