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: Metabolic Diseases (D008659)
..Starting node ..DNA Repair-Deficiency Disorders (D049914)
Child Nodes:
........Ataxia Telangiectasia (D001260) 6
........Bloom Syndrome (D001816)
........Cockayne Syndrome (D003057) 6
........Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
........Fanconi Anemia (D005199) 13
........Li-Fraumeni Syndrome (D016864) 4
........N syndrome (C536108)
........NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT (OMIM:609981)
........Nijmegen Breakage Syndrome (D049932) 1
........Nijmegen Breakage Syndrome-Like Disorder (C567767)
........Rothmund-Thomson Syndrome (D011038) 5
........Severe Combined Immunodeficiency (D016511) 22
........Werner Syndrome (D014898) 1
........Xeroderma Pigmentosum (D014983) 16
Sister Nodes:
..Acid-Base Imbalance (D000137) 42
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95
..Glucose Metabolism Disorders (D044882) 137
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23
..Lipid Metabolism Disorders (D052439) 189
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886
..Mitochondrial Diseases (D028361) 114
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3437
Name:	DNA Repair-Deficiency Disorders
Definition:	Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Alternative IDs:
ParentIDs:	MESH:D008659
TreeNumbers:	C18.452.284
Synonyms:	Chromosome Instability Syndrome \|Chromosome Instability Syndromes \|Deficient DNA Repair \|Deficient DNA Repairs \|Disorder, DNA Repair-Deficiency \|Disorders, DNA Repair-Deficiency \|DNA Repair-Deficiencies \|DNA Repair Deficiency \|DNA Repair-Deficiency \|DNA Repair-De
Slim Mappings:	Metabolic disease
Reference:	MedGen: D049914 MeSH: D049914 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants