Preferred Name

No preferred name provided for selected language
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

bearer_of

http://purl.obolibrary.org/obo/MONDO_0021136

database_cross_reference

GARD:21630

OMIMPS:128100

Orphanet:391799

UMLS:CN227322

NCIT:C35527

definition

An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.

exactMatch

https://omim.org/phenotypicSeries/PS128100

http://purl.obolibrary.org/obo/NCIT_C35527

http://linkedlifedata.com/resource/umls/id/CN227322

http://purl.obolibrary.org/obo/Orphanet_391799

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#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

label

inherited dystonia

notation

MONDO:0044807

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0003441

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