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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:Contiguous Abcd1/Dxs1375e Deletion Syndrome
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Accession:DOID:9005157 term browser browse the term
Synonyms:exact_synonym: DDCH;   DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
 narrow_synonym: CADDS
 primary_id: MESH:C564508;   RDO:0013450
 alt_id: OMIM:300475
For additional species annotation, visit the Alliance of Genome Resources.


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Contiguous Abcd1/Dxs1375e Deletion Syndrome 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 16108
    syndrome 6992
      Contiguous Abcd1/Dxs1375e Deletion Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          chromosomal disease 1716
            Contiguous Abcd1/Dxs1375e Deletion Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.