Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615362
http://purl.bioontology.org/ontology/OMIM/615362
Preferred Name

CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)
Synonyms
CLN13
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CLN13
prefLabel
CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)
Gene Symbol
CLN13
CTSF
Scope Statement
Caused by mutation in the cathepsin F gene (CTSF, 603539.0001) [MOLECULAR BASIS]
Adult onset [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU019628
http://purl.bioontology.org/ontology/OMIM/MTHU050907
http://purl.bioontology.org/ontology/OMIM/MTHU050908
http://purl.bioontology.org/ontology/OMIM/MTHU044028
http://purl.bioontology.org/ontology/OMIM/MTHU036363
http://purl.bioontology.org/ontology/OMIM/MTHU000535
http://purl.bioontology.org/ontology/OMIM/MTHU002764
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU044029
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU044030
http://purl.bioontology.org/ontology/OMIM/MTHU002561
http://purl.bioontology.org/ontology/OMIM/MTHU013494
http://purl.bioontology.org/ontology/OMIM/MTHU036678
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU002752
http://purl.bioontology.org/ontology/OMIM/MTHU000940
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tui
T047
Gene Locus
11q13.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615362
Semantic type UMLS property
Has inheritance type
cui
C3715049
OMIM Entry Type
3
OMIM MimType Value
pound
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