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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:ABCD syndrome
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Accession:DOID:0050600 term browser browse the term
Definition:A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO)
Synonyms:exact_synonym: ABCDS;   albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
 primary_id: MESH:C535334
 alt_id: OMIM:600501
For additional species annotation, visit the Alliance of Genome Resources.


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ABCD syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: ABCD syndrome OMIM
ClinVar		 PMID:7778600 PMID:8001159 PMID:10528251 PMID:11891690 PMID:20127975 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      Waardenburg's syndrome 15
        ABCD syndrome 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            autosomal genetic disease 9395
              autosomal dominant disease 6400
                Waardenburg's syndrome 15
                  ABCD syndrome 1
paths to the root