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: congenital vitreoretinal dysplasia (MONDO:0020247)
Parent Node: syndrome with a symptomatic strabismus (MONDO:0020253)
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 13 ()
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:	18068
Name:	trisomy 13
Definition:	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	chromosome 13, trisomy 13 complete; D trisomy syndrome (formerly); Patau syndrome; trisomy type 13
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal