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

Hello! Guest! Please Login or Register! Clinician Mode

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

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Nephrolithiasis (D053040)
Parent Node: Renal Insufficiency (D051437)
..Starting node ..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
Child Nodes:
Sister Nodes:
..Acute Kidney Injury (D058186) 2
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..Cardio-Renal Syndrome (D059347)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
..Lutz Richner Landolt syndrome (C537726)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Papillorenal syndrome (C537168)
..Renal Insufficiency, Chronic (D051436) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7879

Name:

Nephrolithiasis, X-Linked Recessive, with Renal Failure

Definition:

Alternative IDs:

OMIM:310468

ParentIDs:

MESH:D040181|MESH:D051437|MESH:D053040

TreeNumbers:

C12.777.419.600/C562901 |C12.777.419.780/C562901 |C12.777.967.249/C562901 |C13.351.968.419.600/C562901 |C13.351.968.419.780/C562901 |C13.351.968.967.249/C562901 |C16.320.322/C562901

Synonyms:

Nephrolithiasis 1 |Nephrolithiasis, X-Linked Recessive, Type 1 |NPHL1 |Urolithiasis, X-Linked Recessive, Type 1 |XRN

Slim Mappings:

Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C562901
MeSH: C562901
OMIM: 310468;

Genes: CLCN5;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0012622	Chronic kidney disease
3	HP:0000096	Glomerular sclerosis
4	HP:0002150	Hypercalciuria
5	HP:0003126	Low-molecular-weight proteinuria
6	HP:0002907	Microscopic hematuria
7	HP:0000121	Nephrocalcinosis
8	HP:0000787	Nephrolithiasis
9	HP:0003812	Phenotypic variability
10	HP:0000114	Proximal tubulopathy
11	HP:0000092	Renal tubular atrophy
12	HP:0005576	Tubulointerstitial fibrosis

Disease Causing ClinVar Variants