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mosaic trisomy 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0019866

Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. [ Orphanet:96060 ]

Synonyms: Mosaic trisomy type 5 trisomy 5 mosaicism Mosaic trisomy chromosome 5

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:419849 (MONDO:equivalentTo)
  • GARD:19301 (MONDO:GARD)
  • SCTID:764629008 (MONDO:equivalentTo)
  • UMLS:C2931603 (MONDO:equivalentTo)
  • MESH:C537762 (MONDO:equivalentTo)
  • Orphanet:96060 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/419849

http://identifiers.org/snomedct/764629008

http://linkedlifedata.com/resource/umls/id/C2931603

http://www.orpha.net/ORDO/Orphanet_96060

http://identifiers.org/mesh/C537762

id

MONDO:0019866

Term relations