Experimental Factor Ontology

Last uploaded: July 4, 2024
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

NANDO:1200511

Orphanet:391799

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

https://omim.org/phenotypicSeries/PS128100

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

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

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

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

http://purl.obolibrary.org/obo/MONDO_0100545

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