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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:nonsyndromic aplasia cutis congenita
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Accession:DOID:0080661 term browser browse the term
Definition:A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. (DO)
Synonyms:primary_id: OMIM:107600


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nonsyndromic aplasia cutis congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bms1 BMS1 ribosome biogenesis factor ISO OMIM NCBI chr 4:151,558,163...151,595,187
Ensembl chr 4:151,558,163...151,595,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      ectodermal dysplasia 540
        nonsyndromic aplasia cutis congenita 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              Genetic Skin Diseases 1850
                ectodermal dysplasia 540
                  nonsyndromic aplasia cutis congenita 1
paths to the root