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
MedicalCondition rare_disease Q55783410
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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].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . UMLS 2023. Retrieved . wikidata.org.
  15. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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BibTeX @misc{4ortxyz_autosomal-recessive-dopa-responsive-dystonia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive dopa-responsive dystonia}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-dopa-responsive-dystonia}, note = {Accessed: 2026-05-03}}
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