MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandtotal autosomal trisomy (MONDO:0020051)
..Starting node
..expandmosaic trisomy 3 ()

       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:15060
Name:mosaic trisomy 3
Definition:Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
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Synonyms:Mosaic trisomy chromosome 3; Mosaic trisomy type 3; trisomy 3 mosaicism
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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