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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;   MIM:600501;   MONDO:0010895;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABCD syndrome 		CTD
ClinVar
OMIM		 PMID:7778600 PMID:8001159 PMID:8852659 PMID:10090908 PMID:10528251 More... NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      Waardenburg syndrome 40
        ABCD syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13756
        genetic disease 13374
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal dominant disease 6051
                Waardenburg syndrome 40
                  ABCD syndrome 1
paths to the root