ZFIN Human Disease: dystonia 5

OBO ID: DOID:0090043

Term Name:	dystonia 5		Search Ontology:
Synonyms:
Definition:	A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (3)
References:	ICD10CM:G24.1 OMIM:128230 ORDO:98808
Ontology:	Human Disease ( DOID:0090043 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease dystonia autosomal dominant disease autosomal recessive disease dystonia Show first 5 Terms

OTHER dystonia 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GCH1	gch2 gch1	Dystonia, DOPA-responsive	128230

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None