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Health and Social Person-centric Ontology
Last uploaded:
June 9, 2023
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Preferred Name |
No preferred name provided for selected language
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Synonyms |
familial dystonia rare genetic dystonia rare genetic dystonic disorder hereditary dystonic disorder |
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Definitions |
An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0044807 |
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bearer_of | ||
database_cross_reference |
GARD:21630 OMIMPS:128100 Orphanet:391799 UMLS:CN227322 NCIT:C35527
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definition |
An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
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exactMatch |
https://omim.org/phenotypicSeries/PS128100 http://purl.obolibrary.org/obo/NCIT_C35527 |
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has_exact_synonym |
familial dystonia rare genetic dystonia rare genetic dystonic disorder hereditary dystonic disorder
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id |
MONDO:0044807
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in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
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label |
inherited dystonia
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notation |
MONDO:0044807
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subClassOf |
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