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:
expandKidney Diseases, Cystic (D052177)
Parent Node:
expandLeber Congenital Amaurosis (D057130)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandSenior-Loken Syndrome 3 (C564637)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10119
Name:Senior-Loken Syndrome 3
Definition:
Alternative IDs:OMIM:606995
ParentIDs:MESH:D015418|MESH:D052177|MESH:D057130
TreeNumbers:C10.292.700.225.500/C564637 |C10.574.500.662/C564637 |C11.270.516/C564637 |C11.270.564/C564637 |C11.640.451.451/C564637 |C11.768.364/C564637 |C12.777.419.403/C564637 |C13.351.968.419.403/C564637 |C16.320.290.564/C564637 |C16.320.400.630/C564637
Synonyms:SLSN3
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C564637
MeSH: C564637
OMIM: 606995;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007875Congenital blindness
3 HP:0000805Enuresis
4 HP:0000090Nephronophthisis
5 HP:0000639Nystagmus
6 HP:0001959Polydipsia
7 HP:0000103Polyuria
8 HP:0000108Renal corticomedullary cysts
9 HP:0003774Stage 5 chronic kidney disease
10 HP:0000550Undetectable electroretinogram
11 HP:0000572Visual loss
Disease Causing ClinVar Variants