MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandinherited renal tubular disease (MONDO:0015962)
Parent Node:
expandinherited vitreous-retinal disease (MONDO:0020238)
Parent Node:
expandnephropathy-associated ciliopathy (MONDO:0022409)
Parent Node:
expandrare renal tubular disease (MONDO:0019744)
Parent Node:
expandretinal ciliopathy (MONDO:0022410)
..Starting node
..expandSenior-Loken syndrome ()

       Child Nodes:
........expandnephronophthisis 15 ()
........expandSenior-Loken syndrome 1 ()
........expandSenior-Loken syndrome 4 ()
........expandSenior-Loken syndrome 5 ()
........expandSenior-Loken syndrome 6 ()
........expandSenior-Loken syndrome 7 ()
........expandSenior-Loken syndrome 8 ()
........expandSenior-Loken syndrome 9 ()
........expandSLSN3 ()



 Sister Nodes: 
..expandAlstrom syndrome ()
..expandBardet-Biedl syndrome ()
..expandJoubert syndrome 14 ()
..expandJoubert syndrome 15 ()
..expandJoubert syndrome 16 ()
..expandJoubert syndrome 2 ()
..expandJoubert syndrome 20 ()
..expandJoubert syndrome 28 ()
..expandJoubert syndrome 3 ()
..expandJoubert syndrome 5 ()
..expandJoubert syndrome 9 ()
..expandretinal ciliopathy due to mutation in bardet-biedl gene ()
..expandretinal ciliopathy due to mutation in nephronophthisis gene ()
..expandretinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene ()
..expandretinal ciliopathy due to mutation in the rpgr gene ()
..expandretinal ciliopathy due to mutation in the rpgrip gene ()
..expandretinal ciliopathy due to mutation in usher gene ()
..expandSenior-Loken syndrome ()
..expandshort-rib thoracic dysplasia 9 with or without polydactyly ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17842
Name:Senior-Loken syndrome
Definition:Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
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Synonyms:Loken Senior syndrome; nephronophthisis with retinal dystrophy; renal dysplasia retinal aplasia; renal dysplasia-retinal aplasia syndrome; renal-retinal syndrome; Senior Loken syndrome; SLSN
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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