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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis - Ontology Report - Rat Genome Database

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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;   RPS28-RELATED CONDITION
 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 7:1,641,846...1,643,404
Ensembl chr  X:107,822,178...107,822,525 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr 7:15,309,964...15,311,333
Ensembl chr 7:14,607,801...14,609,170
Ensembl chr16:14,607,801...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:23,507,141...23,515,711
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 19140
    physical disorder 5202
      congenital hypoplastic anemia 304
        pure red-cell aplasia 194
          Diamond-Blackfan anemia 191
            Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7774
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              dysostosis 639
                synostosis 402
                  craniosynostosis 337
                    Crouzon syndrome 32
                      Mandibulofacial Dysostosis 26
                        Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
paths to the root