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ONTOLOGY REPORT - ANNOTATIONS


Term:ABCD syndrome
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Accession:DOID:0050600 term browser browse the term
Definition:An autosomal recessive disease 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;   albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
 primary_id: MESH:C535334
 alt_id: OMIM:600501;   RDO:0000396
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ABCD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Waardenburg's syndrome 12
        ABCD syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Waardenburg's syndrome 12
                  ABCD syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.