Medical Subject Headings

Last uploaded: November 18, 2019
Preferred Name

Dystonia, Dopa-responsive

Synonyms

Dystonia-Parkinsonism with diurnal fluctuation

ID

http://purl.bioontology.org/ontology/MESH/C538007

altLabel

Dystonia-Parkinsonism with diurnal fluctuation

Dystonia, Dopa-responsive, autosomal dominant

Dopa-responsive dystonia, autosomal dominant

Segawa syndrome, autosomal dominant

Dystonia, progressive, with diurnal variation

Dopa-Responsive Dystonia

Hereditary Progressive Dystonia with Marked Diurnal Fluctuation

Dystonia 5

cui

C1851920

HM

D020821

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D020821

MDA

20100825

MeSH Frequency

85

MMR

20150818

notation

C538007

prefLabel

Dystonia, Dopa-responsive

SC

3

Scope Statement

A hereditary DYSTONIA where symptoms similar to those of PARKINSON DISEASE arise in early childhood; it responds favorably to treatment with LEVODOPA. Germline mutations in the GCH1 gene have been identified. OMIM: 128230

TERMUI

T841298

T744445

T744444

T841297

T744446

T744443

T744441

T744447

T744439

TH

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/X004X RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715768000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/128230 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/128230 OMIM LOOM
http://purl.bioontology.org/ontology/SCTSPA/715768000 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/600225 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10080034 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10080034 MEDDRA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538007 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230332007 SNOMEDCT CUI