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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:11891690, PMID:25741868, PMID:26100139, PMID:26467025 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Waardenburg's syndrome 12
        ABCD syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                Waardenburg's syndrome 12
                  ABCD 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.