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Experimental Factor Ontology
Last uploaded:
November 18, 2024
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| Preferred Name | inherited dystonia | |
| Synonyms |
rare genetic dystonic disorder hereditary dystonic disorder familial dystonia rare genetic dystonia |
|
| Definitions |
An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0044807 |
|
| database_cross_reference |
UMLS:C5680022 NANDO:1200511 Orphanet:391799 MEDGEN:1842468 NCIT:C35527 OMIMPS:128100 GARD:21630
|
|
| definition |
An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
|
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C5680022 https://omim.org/phenotypicSeries/PS128100 http://identifiers.org/medgen/1842468 |
|
| has_exact_synonym |
rare genetic dystonic disorder hereditary dystonic disorder familial dystonia rare genetic dystonia
|
|
| id |
MONDO:0044807
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inherited dystonia
|
|
| notation |
MONDO:0044807
|
|
| preferred label |
inherited dystonia
|
|
| prefLabel |
inherited dystonia
|
|
| subClassOf |
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