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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:deafness, dystonia, and cerebral hypomyelination
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Accession:DOID:0112123 term browser browse the term
Definition:A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28. (DO)
Synonyms:exact_synonym: DDCH;   contiguous Abcd1/Dxs1375e deletion syndrome;   severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome;   severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
 narrow_synonym: CADDS
 primary_id: MESH:C564508
 alt_id: OMIM:300475
 xref: GARD:12472;   ORDO:369939
For additional species annotation, visit the Alliance of Genome Resources.


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deafness, dystonia, and cerebral hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO OMIM NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      deafness, dystonia, and cerebral hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            X-linked monogenic disease 929
              X-linked dominant disease 109
                deafness, dystonia, and cerebral hypomyelination 1
paths to the root