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: Craniofacial Abnormalities (D019465)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Mental Disorders (D001523)
..Starting node ..Chromosome 18 Pericentric Inversion (C563734)
Child Nodes:
Sister Nodes:
..Adjustment Disorders (D000275)
..Anxiety Disorders (D001008) 15
..Chromosome 18 Pericentric Inversion (C563734)
..Delirium, Dementia, Amnestic, Cognitive Disorders (D019965) 100
..Dissociative Disorders (D004213) 1
..Eating Disorders (D001068) 6
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Factitious Disorders (D005162) 3
..Fragile Site 16p12 (C565001)
..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..Impulse Control Disorders (D007174) 4
..Mental Disorders Diagnosed in Childhood (D019952) 693
..Mood Disorders (D019964) 23
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..Neurotic Disorders (D009497)
..Personality Disorders (D010554) 12
..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
..Schizophrenia and Disorders with Psychotic Features (D019967) 15
..Sexual and Gender Disorders (D019968) 123
..Sleep Disorders (D012893) 41
..Somatoform Disorders (D013001) 4
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Substance-Related Disorders (D019966) 38
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2234
Name:	Chromosome 18 Pericentric Inversion
Definition:
Alternative IDs:
ParentIDs:	MESH:D001523\|MESH:D006130\|MESH:D008607\|MESH:D019465
TreeNumbers:	C05.660.207/C563734 \|C10.597.606.643/C563734 \|C16.131.621.207/C563734 \|C23.550.393/C563734 \|C23.888.592.604.646/C563734 \|F03.550.600/C563734 \|F03/C563734
Synonyms:
Slim Mappings:	Congenital abnormality\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C563734 MeSH: C563734 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants