MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: chromosomal anomaly with cataract (MONDO:0020226)
Parent Node: eyebrow hypertrophy (MONDO:0020186)
Parent Node: eyebrow/eyelashes distichiasis (MONDO:0020190)
Parent Node: syndromic anorectal malformation (MONDO:0015246)
Parent Node: syndromic diaphragmatic or abdominal wall malformation (MONDO:0015216)
Parent Node: syndromic renal or urinary tract malformation (MONDO:0019721)
Parent Node: total autosomal trisomy (MONDO:0020051)
..Starting node ..trisomy 18 ()
Child Nodes:
Sister Nodes:
..down syndrome ()
..mosaic trisomy 1 ()
..mosaic trisomy 10 ()
..mosaic trisomy 12 ()
..mosaic trisomy 14 ()
..mosaic trisomy 15 ()
..mosaic trisomy 16 ()
..mosaic trisomy 17 ()
..mosaic trisomy 2 ()
..mosaic trisomy 20 ()
..mosaic trisomy 22 ()
..mosaic trisomy 3 ()
..mosaic trisomy 4 ()
..mosaic trisomy 5 ()
..mosaic trisomy 7 ()
..mosaic trisomy 8 ()
..mosaic trisomy 9 ()
..trisomy 13 ()
..trisomy 18 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18071
Name:	trisomy 18
Definition:	Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	18 trisomy; chromosome 18 duplication; chromosome 18 trisomy; complete trisomy 18 syndrome; E3 trisomy; Edwards syndrome; trisomy 16-18 (formerly); trisomy 18; trisomy E (formerly); trisomy type 18
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal