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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:Shwachman-Diamond syndrome
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Accession:DOID:0060479 term browser browse the term
Definition:A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)
Synonyms:exact_synonym: SDS;   SDS1;   Shwachman syndrome;   Shwachman-Bodian syndrome;   Shwachman-Bodian-Diamond syndrome;   Shwachman-Diamond syndrome 1;   Shwachman-Diamond type metaphyseal dysplasia;   Shwachman-Diamond-Oski syndrome;   congenital lipomatosis of pancreas;   metaphyseal chondrodysplasia, Shwachman type;   pancreatic insufficiency and bone marrow dysfunction
 primary_id: MESH:D000081003
 alt_id: DOID:0080023;   OMIM:260400
 xref: GARD:4863;   NCI:C61235;   OMIM:PS260400


show annotations for term's descendants           Sort by:
Shwachman-Diamond syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752 		JBrowse link
G Sbds Sbds, ribosome maturation factor susceptibility ISO
ISS		 DNA:mutations:multiple
CTD Direct Evidence: marker/mechanism
OMIM:260400
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280 		JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017 		JBrowse link
G Srp54a signal recognition particle 54A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Congenital Bone Marrow Failure Syndromes 12
        Shwachman-Diamond syndrome 6
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                metaphyseal dysplasia 14
                  Shwachman-Diamond syndrome 6
paths to the root