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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Shwachman-Diamond syndrome term browser
Symbol Object Name 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 CTD NCBI chr 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar Annotator: match by OMIM:260400
ClinVar Annotator: match by term: Shwachman syndrome
ClinVar
OMIM
PMID:10393609, PMID:10556188, PMID:11553003, PMID:12496757, PMID:14749921, PMID:14984468, PMID:15284109, PMID:15769891, PMID:15860664, PMID:15942154, PMID:16047374, PMID:17478638, PMID:17916435, PMID:19148133, PMID:21536732, PMID:21695142, PMID:22191555, PMID:22934832, PMID:22935661, PMID:23351992, PMID:24033266, PMID:24388329, PMID:24629175, PMID:24898207, PMID:25525159, PMID:25741868, PMID:26822237, PMID:28509441, PMID:32581362, PMID:12496757 RGD:1599541 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:173,640,385...173,670,790
Ensembl chr 2:173,640,385...173,668,555
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Shwachman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28972538, PMID:29914977 NCBI chr 6:75,996,629...76,035,768
Ensembl chr 6:75,996,643...76,034,083
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Congenital Bone Marrow Failure Syndromes 11
        Shwachman-Diamond syndrome 6
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                metaphyseal dysplasia 13
                  Shwachman-Diamond syndrome 6
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.