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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:Diamond Blackfan anemia 15 with mandibulofacial dysostosis
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Accession:DOID:0111894 term browser browse the term
Definition:A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: DBA15
 primary_id: OMIM:606164
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24942156 More... NCBI chr  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    physical disorder 3086
      congenital hypoplastic anemia 115
        Diamond-Blackfan anemia 65
          Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Skin and Connective Tissue Diseases 5813
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
paths to the root