deafness dystonia syndrome
mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems
üksikjuht nähtusest
head and neck disease[4]
developmental defect during embryogenesis[4]
rare disease
class of disease
mille alamklass
mitochondrial disease[3]
nervous system heredodegenerative disease[1]
eye degenerative disease[1]
mitochondrial protein import disorder[4]
syndromic genetic deafness[4]
syndromic hereditary optic neuropathy[4]
X-linked intellectual disability[4]
mitochondrial disease with eye involvement[4]
Wikimedia projekti fookusnimekiri
ICD-9-CM
759.89[1]
Viited
- ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0010578
- ↑ 2,0 2,1 2,2 Disease Ontology, 28. august 2019, DOID:0050757
- ↑ 3,0 3,1 3,2 3,3 Disease Ontology, 29. november 2020, DOID:0050757
- ↑ 4,0 4,1 4,2 4,3 4,4 4,5 4,6 Monarch Disease Ontology release 2018-06-29, 28. juuli 2018, MONDO_0010578
- ↑ O60220, 13. august 2019, UniProt
- ↑ A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
- ↑ ClinGen, 9. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/a21d3842-b39e-4f98-860a-61a9aa4e2d2b--2017-12-19T05:00:00
- ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21d3842-b39e-4f98-860a-61a9aa4e2d2b-2017-12-19T050000.000Z
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000126953/Orphanet_52368, inferred from an Open Targets association score over 0.7
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid