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: Signs and Symptoms (D012816)
..Starting node ..Skin Manifestations (D012877)
Child Nodes:
........Cafe-au-Lait Spots (D019080) 4
........Ecchymosis (D004438)
........Jaundice (D007565) 6
........Livedo Reticularis (D054068) 1
........Necrolytic Migratory Erythema (D058568)
........Pallor (D010167)
........Pruritus (D011537) 6
........Purpura (D011693) 15
........Striae Distensae (D057896) 1
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10296
Name:	Skin Manifestations
Definition:	Dermatologic disorders attendant upon non-dermatologic disease or injury.
Alternative IDs:
ParentIDs:	MESH:D012816
TreeNumbers:	C23.888.885
Synonyms:	Manifestation, Skin \|Manifestations, Skin \|Skin Manifestation
Slim Mappings:	Signs and symptoms
Reference:	MedGen: D012877 MeSH: D012877 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants