Disease browser and phenotype portal

About
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
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Death (D003643)
Parent Node: Pregnancy Complications (D011248)
..Starting node ..Fetal Death (D005313)
Child Nodes:
........Cardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
........Fetal Resorption (D005327)
........Stillbirth (D050497)
........Thymic Aplasia with Fetal Death (C564768)
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:	4248
Name:	Fetal Death
Definition:	Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
Alternative IDs:
ParentIDs:	MESH:D003643\|MESH:D011248
TreeNumbers:	C13.703.223 \|C23.550.260.585
Synonyms:	Death, Fetal \|Deaths, Fetal \|Demise, Fetal \|Fetal Deaths \|Fetal Demise \|Fetal Mummification \|Mummification, Fetal
Slim Mappings:	Pathology (process)\|Pregnancy complication
Reference:	MedGen: D005313 MeSH: D005313 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants