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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
 xref: MESH:C535334;   MONDO:0010895;   OMIM:600501;   ORDO:918


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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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 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 21126
    syndrome 10839
      Waardenburg syndrome 15
        ABCD syndrome 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                Waardenburg syndrome 15
                  ABCD syndrome 1
paths to the root