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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 the RPS28 gene on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: DBA15
 primary_id: MIM:606164


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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 Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:24942156 PMID:25741868 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
Ensembl chr16:14,607,801...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 19099
    physical disorder 5180
      congenital hypoplastic anemia 301
        pure red-cell aplasia 192
          Diamond-Blackfan anemia 189
            Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7807
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  craniosynostosis 332
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
paths to the root