Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

obsolete_Autosomal dominant dopa-responsive dystonia
Synonyms

Hereditary progressive dystonia with marked diurnal fluctuation

GTPCH1-deficient DRD

Autosomal dominant Segawa syndrome

GTPCH1-deficient dopa-responsive dystonia

HPD with marked diurnal fluctuation

DYT5a
Definitions

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
ID

http://www.orpha.net/ORDO/Orphanet_98808
Obsolete

true
database_cross_reference

OMIM:128230

ICD10:G24.1
definition

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
definition_citation

orphanet
deprecated

true
has_exact_synonym

Hereditary progressive dystonia with marked diurnal fluctuation

GTPCH1-deficient DRD

Autosomal dominant Segawa syndrome

GTPCH1-deficient dopa-responsive dystonia

HPD with marked diurnal fluctuation

DYT5a
label

obsolete_Autosomal dominant dopa-responsive dystonia
obsoleted_in_version

3.41.0
preferred label

obsolete_Autosomal dominant dopa-responsive dystonia
prefLabel

obsolete_Autosomal dominant dopa-responsive dystonia
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0007495
subClassOf

http://www.w3.org/2002/07/owl#Thing
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