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Mondo Disease Ontology
Last uploaded:
January 7, 2025
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| Preferred Name | Spasmus nutans | |
| Synonyms |
Spasmus nutans Spasmus nutans (disease) |
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| Definitions |
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017201 |
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| database_cross_reference |
HP:0010533 UMLS:C0546878 GARD:21058 MEDGEN:154280 icd11.foundation:1868433558 MedDRA:10059593 SCTID:400948003 Orphanet:279882
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|
| definition |
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
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|
| has_exact_synonym |
Spasmus nutans Spasmus nutans (disease)
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|
| IAO_0000589 |
Spasmus nutans (disease)
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|
| id |
MONDO:0017201
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_clinical_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Spasmus nutans
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|
| notation |
MONDO:0017201
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|
| prefLabel |
Spasmus nutans
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_279882 http://linkedlifedata.com/resource/umls/id/C0546878 http://identifiers.org/medgen/154280 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1868433558 |
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| treeView | ||
| subClassOf |
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