Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/616307
http://purl.bioontology.org/ontology/OMIM/616307
Preferred Name

SENIOR-LOKEN SYNDROME 8
Synonyms
SLSN8
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SLSN8
prefLabel
SENIOR-LOKEN SYNDROME 8
Gene Symbol
NPHP13
SPGF72
CED4
SRTD5
WDR19
ATD5
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notation
616307
Scope Statement
Caused by mutation in the WD repeat-containing protein-19 (WDR19, 608151.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU051433
http://purl.bioontology.org/ontology/OMIM/MTHU010080
http://purl.bioontology.org/ontology/OMIM/MTHU051438
http://purl.bioontology.org/ontology/OMIM/MTHU051431
http://purl.bioontology.org/ontology/OMIM/MTHU051425
http://purl.bioontology.org/ontology/OMIM/MTHU051437
http://purl.bioontology.org/ontology/OMIM/MTHU051424
http://purl.bioontology.org/ontology/OMIM/MTHU009087
http://purl.bioontology.org/ontology/OMIM/MTHU051436
http://purl.bioontology.org/ontology/OMIM/MTHU000621
http://purl.bioontology.org/ontology/OMIM/MTHU051427
http://purl.bioontology.org/ontology/OMIM/MTHU037221
http://purl.bioontology.org/ontology/OMIM/MTHU051434
http://purl.bioontology.org/ontology/OMIM/MTHU051426
http://purl.bioontology.org/ontology/OMIM/MTHU001845
http://purl.bioontology.org/ontology/OMIM/MTHU051429
http://purl.bioontology.org/ontology/OMIM/MTHU051428
http://purl.bioontology.org/ontology/OMIM/MTHU051430
http://purl.bioontology.org/ontology/OMIM/MTHU007674
http://purl.bioontology.org/ontology/OMIM/MTHU051432
http://purl.bioontology.org/ontology/OMIM/MTHU051435
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
4p14-p11
tui
T047
cui
C4225376
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