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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | CLN3 lysosomal/endosomal transmembrane protein, battenin | |
| Synonyms |
JNCL BTN1 juvenile neuronal ceroid lipofuscinosis |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_120638 |
|
| alternative_term |
JNCL BTN1 juvenile neuronal ceroid lipofuscinosis
|
|
| hasDbXref |
Ensembl:ENSG00000188603 OMIM:607042 ClinVar:CLN3 Genatlas:CLN3 SwissProt:Q13286 HGNC:2074
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|
| label |
CLN3 lysosomal/endosomal transmembrane protein, battenin
|
|
| prefixIRI |
ORDO:Orphanet_120638
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|
| prefLabel |
CLN3 lysosomal/endosomal transmembrane protein, battenin
|
|
| symbol |
CLN3
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|
| subClassOf |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://www.ncbi.nlm.nih.gov/gene/12752 | NIFSTD | LOOM |
| http://purl.bioontology.org/ontology/OMIM/607042 | OMIM | LOOM |