autosomal recessive dopa-responsive dystonia
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy
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autosomal recessive dopa-responsive dystonia
Summary
autosomal recessive dopa-responsive dystonia is a rare disease[1].
Key Facts
- autosomal recessive dopa-responsive dystonia's instance of is recorded as rare disease[2].
- autosomal recessive dopa-responsive dystonia's instance of is recorded as class of disease[3].
- autosomal recessive dopa-responsive dystonia's subclass of is recorded as autosomal recessive disease[4].
- autosomal recessive dopa-responsive dystonia's subclass of is recorded as dopamine-responsive dystonia[5].
- autosomal recessive dopa-responsive dystonia's subclass of is recorded as tyrosinemia[6].
- autosomal recessive dopa-responsive dystonia's subclass of is recorded as disorder of pterin metabolism[7].
- autosomal recessive dopa-responsive dystonia's OMIM ID is recorded as 605407[8].
- autosomal recessive dopa-responsive dystonia's Orphanet ID is recorded as 101150[9].
- autosomal recessive dopa-responsive dystonia's NCI Thesaurus ID is recorded as C157158[10].
- autosomal recessive dopa-responsive dystonia's genetic association is recorded as TH[11].
- autosomal recessive dopa-responsive dystonia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_101150[12].
- autosomal recessive dopa-responsive dystonia's UMLS CUI is recorded as C1854299[13].
- autosomal recessive dopa-responsive dystonia's UMLS CUI is recorded as C2673535[14].
- autosomal recessive dopa-responsive dystonia's UMLS CUI is recorded as C5700309[15].
- autosomal recessive dopa-responsive dystonia's ICD-10-CM is recorded as G24.1[16].
- autosomal recessive dopa-responsive dystonia's GARD rare disease ID is recorded as 1902[17].
- autosomal recessive dopa-responsive dystonia's Mondo ID is recorded as MONDO_0011551[18].
- autosomal recessive dopa-responsive dystonia's Genetics Home Reference Conditions ID is recorded as tyrosine-hydroxylase-deficiency[19].
- autosomal recessive dopa-responsive dystonia's UniProt disease ID is recorded as DI-00410[20].