Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619921 http://purl.bioontology.org/ontology/OMIM/619921
Preferred Name	DYSTONIA 35, CHILDHOOD-ONSET
Synonyms	DYT35
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DYT35
prefLabel	DYSTONIA 35, CHILDHOOD-ONSET
Gene Symbol	SHQ1 NEDDS DYT35
Scope Statement	Caused by mutation in the SHQ1, H/ACA ribonucleoprotein assembly factor gene (SHQ1, 613663.0001) [MOLECULAR BASIS] One family has been reported (last curated June 2022) [MISCELLANEOUS] Dystonia may show diurnal variation [MISCELLANEOUS] Onset in first 6 months of life [MISCELLANEOUS] Partial response to L-dopa treatment [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU002104
tui	T047
Gene Locus	3p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619921
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5677003
OMIM Entry Type	3
OMIM MimType Value	pound

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