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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 6
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Accession:DOID:0111879 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1. (DO)
Synonyms:exact_synonym: Aase Smith Syndrome 2;   Aase-Smith syndrome II;   Anemia and triphalangeal thumbs;   Anemia congenital erythroid hypoplastic;   Congenital anemia and triphalangeal thumbs;   DBA6;   RPL5-related Diamond-Blackfan anemia;   chronic congenital aregenerative anemia;   hypoplastic anemia-triphalangeal thumbs, Aase-Smith type
 primary_id: MESH:C538442
 alt_id: OMIM:612561
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
DNA:snps, duplication, deletions:exons:multiple (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:mutations:multiple (human)
OMIM
ClinVar
PMID:19061985, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28991257, PMID:19191325, PMID:25132370, PMID:20378560, PMID:19773262, PMID:19061985, PMID:25946618 RGD:11535122, RGD:11535128, RGD:11535130, RGD:11535132, RGD:11535967, RGD:11535969 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        anemia 405
          pure red-cell aplasia 65
            Diamond-Blackfan anemia 62
              Diamond-Blackfan anemia 6 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              aplastic anemia 150
                congenital hypoplastic anemia 107
                  Diamond-Blackfan anemia 62
                    Diamond-Blackfan anemia 6 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.