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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/204300
http://purl.bioontology.org/ontology/OMIM/204300
|
|---|---|
| Preferred Name | CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE) |
| Synonyms |
CLN6B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CLN6B
|
|---|---|
| prefLabel | CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE)
|
| Gene Symbol |
CLN6
CLN6A
|
| Scope Statement | Onset in adulthood (third to fourth decade) [MISCELLANEOUS]
Caused by mutation in the CLN6 transmembrane ER protein gene (CLN6, 606725.0011) [MOLECULAR BASIS]
For similar autosomal dominant form, see 162350 [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q21-q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 204300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5561927
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |