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: Kidney Diseases (D007674)
..Starting node ..Kidney Diseases, Cystic (D052177)
Child Nodes:
........Baraitser Rodeck Garner syndrome (C537906)
........Brachymesomelia renal syndrome (C537096)
........Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
........Cystic Kidney Disease with Ventriculomegaly (C565657)
........Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
........Joubert syndrome 1 (C536293)
........Joubert syndrome 2 (C536294)
........Joubert syndrome 4 (C536296)
........Joubert Syndrome 7 (C566916)
........Medullary Sponge Kidney (D007691) 1
........Multicystic Dysplastic Kidney (D021782) 2
........NEPHRONOPHTHISIS 11 (OMIM:613550)
........Nephronophthisis 2 (C566582)
........Nephronophthisis 3 (C565780)
........Nephronophthisis 4 (C564640)
........Nephronophthisis 7 (C566930)
........Nephronophthisis, familial juvenile (C537699)
........Polycystic Kidney Diseases (D007690) 21
........Renal cysts and diabetes syndrome (C535520)
........RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
........Senior Loken Syndrome (C537580)
........Senior-Loken Syndrome 3 (C564637)
........Senior-Loken syndrome 4 (C537581)
........Senior-Loken Syndrome 5 (C563763)
........Senior-Loken Syndrome 6 (C565708)
........Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
........Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
........Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
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:	6095
Name:	Kidney Diseases, Cystic
Definition:	A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).
Alternative IDs:
ParentIDs:	MESH:D007674
TreeNumbers:	C12.777.419.403 \|C13.351.968.419.403
Synonyms:	Cystic Kidney \|Cystic Kidney Disease \|Cystic Kidney Diseases \|Cystic Kidneys \|Cystic Renal Disease \|Cystic Renal Diseases \|Disease, Cystic Kidney \|Disease, Cystic Renal \|Diseases, Cystic Kidney \|Diseases, Cystic Renal \|Kidney, Cystic \|Kidney Disease, Cystic \|Kidneys
Slim Mappings:	Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D052177 MeSH: D052177 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants