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Mondo Disease Ontology
Last uploaded:
December 3, 2024
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| Preferred Name | inherited dystonia | |
| Synonyms |
familial dystonia rare genetic dystonia rare genetic dystonic disorder hereditary dystonic disorder |
|
| 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 |
GARD:21630 NANDO:1200511 OMIMPS:128100 UMLS:C5680022 MEDGEN:1842468 Orphanet:391799 NCIT:C35527
|
|
| definition |
An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
|
|
| has_exact_synonym |
familial dystonia rare genetic dystonia rare genetic dystonic disorder hereditary dystonic disorder
|
|
| id |
MONDO:0044807
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inherited dystonia
|
|
| notation |
MONDO:0044807
|
|
| prefLabel |
inherited dystonia
|
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C5680022 https://omim.org/phenotypicSeries/PS128100 http://identifiers.org/medgen/1842468 |
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| treeView | ||
| subClassOf |
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