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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 14 with mandibulofacial dysostosis
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Accession:DOID:0111897 term browser browse the term
Definition:A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: DBA14
 primary_id: OMIM:300946
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital hypoplastic anemia 115
        Diamond-Blackfan anemia 65
          Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
paths to the root