Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 18156
    syndrome 9705
      ectodermal dysplasia 428
        nonsyndromic aplasia cutis congenita 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Genetic Skin Diseases 1565
              ectodermal dysplasia 428
                nonsyndromic aplasia cutis congenita 1
paths to the root