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: Calculi (D002137)
Parent Node: Testicular Diseases (D013733)
..Starting node ..Testicular Microlithiasis (C566478)
Child Nodes:
Sister Nodes:
..Cryptorchidism (D003456) 12
..Orchitis (D009920)
..Sohval Soffer syndrome (C536679)
..Testicular Microlithiasis (C566478)
..Testicular Neoplasms (D013736) 11
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10936

Name:

Testicular Microlithiasis

Definition:

Alternative IDs:

OMIM:610441

ParentIDs:

MESH:D002137|MESH:D013733

TreeNumbers:

C12.294.829/C566478 |C19.391.829/C566478 |C23.300.175/C566478

Synonyms:

Slim Mappings:

Endocrine system disease|Pathology (anatomical condition)|Urogenital disease (male)

Reference:

MedGen: C566478
MeSH: C566478
OMIM: 610441;

Genes: SLC34A2;

Phenotypes

1

Testicular microlithiasis

Disease Causing ClinVar Variants