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distal trisomy 6q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019881

Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. [ Orphanet:96098 ]

Synonyms: telomeric duplication 6q distal duplication 6q trisomy 6qter Chromosome 6, Partial Trisomy 6q distal trisomy type 6q

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:763275001 (MONDO:equivalentTo)
  • GARD:19314 (MONDO:GARD)
  • Orphanet:96098 (MONDO:equivalentTo)
  • NORD:959 (MONDO:NORD)
  • MEDGEN:162773 (MONDO:equivalentTo)
  • UMLS:C0795817 (MONDO:equivalentTo)
  • MESH:C537810 (MONDO:equivalentTo)
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/medgen/162773

http://identifiers.org/mesh/C537810

http://identifiers.org/snomedct/763275001

http://www.orpha.net/ORDO/Orphanet_96098

http://linkedlifedata.com/resource/umls/id/C0795817

id

MONDO:0019881