Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Diabetes Complications (D048909)
Parent Node: Kidney Diseases (D007674)
..Starting node ..Diabetic Nephropathies (D003928)
Child Nodes:
........MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 (OMIM:603933)
........MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (OMIM:612628)
........MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (OMIM:612633)
........MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (OMIM:612634)
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..AIDS-Associated Nephropathy (D016263)
..Alsing syndrome (C536588)
..Anuria (D001002)
..Arnold Stickler Bourne syndrome (C537431)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..Blue diaper syndrome (C536239)
..Complement Factor H Deficiency (C562875)
..Diabetes Insipidus (D003919) 10
..Diabetic Nephropathies (D003928) 4
..Dimauro disease (C536176)
..Fanconi Syndrome (D005198) 3
..Hepatorenal Syndrome (D006530)
..Hereditary renal agenesis (C536482)
..Herrmann syndrome (C538113)
..Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
..Hydronephrosis (D006869) 5
..Hyperoxaluria (D006959) 4
..Hypertension, Renal (D006977) 3
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Infundibulopelvic dysgenesis (C535528)
..Jejunal atresia with renal adysplasia (C537567)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 9 (C567364)
..Juvenile gout (C537696)
..Kidney Cortex Necrosis (D007673)
..Kidney Diseases, Cystic (D052177) 52
..Kidney Neoplasms (D007680) 23
..Kidney Papillary Necrosis (D007681)
..Lachiewicz Sibley syndrome (C538131)
..Lipoprotein Glomerulopathy (C567089)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..Nephritis (D009393) 51
..Nephrocalcinosis (D009397) 6
..Nephrolithiasis (D053040) 11
..NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephrosclerosis (D009400)
..Nephrosis (D009401) 22
..Perinephritis (D010501)
..Radio renal syndrome (C536267)
..Ren-Related Kidney Disease (C580420)
..Renal Artery Obstruction (D012078)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal Hypodysplasia, Nonsyndromic, 1 (C563661)
..Renal Insufficiency (D051437) 15
..Renal Nutcracker Syndrome (D059228)
..Renal Osteodystrophy (D012080)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..Selig Benacerraf Greene syndrome (C535840)
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Siegler Brewer Carey syndrome (C537335)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Thrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..Thyrocerebral-retinal syndrome (C536908)
..Tuberculosis, Renal (D014398)
..Uremia (D014511) 4
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3314
Name:	Diabetic Nephropathies
Definition:	KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
Alternative IDs:
ParentIDs:	MESH:D007674\|MESH:D048909
TreeNumbers:	C12.777.419.192 \|C13.351.968.419.192 \|C19.246.099.875
Synonyms:	Diabetic Glomerulosclerosis \|Diabetic Kidney Disease \|Diabetic Kidney Diseases \|Diabetic Nephropathy \|Glomerulosclerosis, Diabetic \|Glomerulosclerosis, Nodular \|Intracapillary Glomerulosclerosis \|Kidney Disease, Diabetic \|Kidney Diseases, Diabetic \|Kimmelstiel Wi
Slim Mappings:	Endocrine system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D003928 MeSH: D003928 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants