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

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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: Pathological Conditions, Signs and Symptoms (D013568)
..Starting node ..Signs and Symptoms (D012816)
Child Nodes:
........Aging, Premature (D019588) 1
........Asthenia (D001247)
........Body Temperature Changes (D001832) 10
........Body Weight (D001835) 59
........Cardiac Output, High (D016534)
........Cardiac Output, Low (D002303)
........Chills (D023341)
........Cyanosis (D003490) 3
........Edema (D004487) 11
........Eye Manifestations (D005132) 9
........Failure to Thrive (D005183) 5
........Fatigue (D005221) 2
........Feminization (D005262)
........Fetal Distress (D005316)
........Flushing (D005483) 2
........Heart Murmurs (D006337) 1
........Hot Flashes (D019584)
........Hypergammaglobulinemia (D006942) 6
........Hyperlactatemia (D065906)
........Hypertriglyceridemic Waist (D064250)
........Intermittent Claudication (D007383)
........Mobility Limitation (D051346)
........Motion Sickness (D009041) 2
........Neurologic Manifestations (D009461) 1586
........Oral Manifestations (D009912) 3
........Pain (D010146) 55
........Polydipsia (D059606) 1
........Prodromal Symptoms (D062706)
........Pseudophakia (D019591)
........Reticulocytosis (D045262)
........Signs and Symptoms, Digestive (D012817) 50
........Signs and Symptoms, Respiratory (D012818) 37
........Skin Manifestations (D012877) 42
........Urological Manifestations (D020924) 26
........Virilism (D014770) 8
Sister Nodes:
..Morphological and Microscopic Findings (D065308) 3
..Pathologic Processes (D010335) 1132
..Pathological Conditions, Anatomical (D020763) 522
..Signs and Symptoms (D012816) 1837
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10234
Name:	Signs and Symptoms
Definition:	Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.
Alternative IDs:
ParentIDs:	MESH:D013568
TreeNumbers:	C23.888
Synonyms:	Symptoms and Signs
Slim Mappings:	Signs and symptoms
Reference:	MedGen: D012816 MeSH: D012816 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants