Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
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- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
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Phenome-Disease
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pregnancy Complications (D011248)
..Starting node ..Polyhydramnios (D006831)
Child Nodes:
........Circumvallate Placenta Syndrome (C565847)
........Kniest like dysplasia lethal (C537208)
........Polyhydramnios, Chronic Idiopathic (C564876)
........Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
Sister Nodes:
..Abortion, Spontaneous (D000022) 9
..Acute fatty liver of pregnancy (C537957)
..Chorea Gravidarum (D020150)
..Diabetes, Gestational (D016640) 5
..Fetal Death (D005313) 4
..Fetal Diseases (D005315) 51
..Hypertension, Pregnancy-Induced (D046110) 7
..Hyperthyroidism, Familial Gestational (C566384)
..Intrahepatic Cholestasis of Pregnancy (C535932)
..Maternal Death (D063130)
..Morning Sickness (D048968) 1
..Nuchal Cord (D053589)
..Obstetric Labor Complications (D007744) 17
..Oligohydramnios (D016104) 1
..Pelvic Floor Disorders (D059952)
..Pemphigoid Gestationis (D006559)
..Perinatal Death (D066087)
..Phenylketonuria, Maternal (D017042)
..Placenta Diseases (D010922) 6
..Polyhydramnios (D006831) 4
..Pregnancy Complications, Cardiovascular (D011249) 1
..Pregnancy Complications, Hematologic (D011250)
..Pregnancy Complications, Infectious (D011251) 4
..Pregnancy Complications, Neoplastic (D011252) 7
..Pregnancy in Diabetics (D011254) 6
..Pregnancy, Ectopic (D011271) 7
..Pregnancy, Prolonged (D011273)
..Prenatal Injuries (D049188) 1
..Pruritic urticarial papules plaques of pregnancy (C535817)
..Puerperal Disorders (D011644) 13
..Twinning due to Superfetation (C566018)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9087
Name:	Polyhydramnios
Definition:	A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
Alternative IDs:
ParentIDs:	MESH:D011248
TreeNumbers:	C13.703.610
Synonyms:	Hydramnios
Slim Mappings:	Pregnancy complication
Reference:	MedGen: D006831 MeSH: D006831 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants