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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 the BCAP31 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: BCAP31-RELATED CONDITION;   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: MIM:300475
 xref: GARD:12472;   ORDO:369939


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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 Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCAP31-related condition | ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		 OMIM
CTD
ClinVar		 PMID:24011989 PMID:25741868 PMID:28492532 PMID:33603160 PMID:35887114 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:24011989 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      deafness, dystonia, and cerebral hypomyelination 5
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            X-linked monogenic disease 1453
              X-linked dominant disease 250
                deafness, dystonia, and cerebral hypomyelination 5
paths to the root