MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandtotal autosomal trisomy (MONDO:0020051)
..Starting node
..expandmosaic trisomy 5 ()

       Child Nodes:



 Sister Nodes: 
..expanddown syndrome ()
..expandmosaic trisomy 1 ()
..expandmosaic trisomy 10 ()
..expandmosaic trisomy 12 ()
..expandmosaic trisomy 14 ()
..expandmosaic trisomy 15 ()
..expandmosaic trisomy 16 ()
..expandmosaic trisomy 17 ()
..expandmosaic trisomy 2 ()
..expandmosaic trisomy 20 ()
..expandmosaic trisomy 22 ()
..expandmosaic trisomy 3 ()
..expandmosaic trisomy 4 ()
..expandmosaic trisomy 5 ()
..expandmosaic trisomy 7 ()
..expandmosaic trisomy 8 ()
..expandmosaic trisomy 9 ()
..expandtrisomy 13 ()
..expandtrisomy 18 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19866
Name:mosaic trisomy 5
Definition: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.
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Synonyms:Mosaic trisomy chromosome 5; Mosaic trisomy type 5; trisomy 5 mosaicism
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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