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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 2
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Accession:DOID:9009168 term browser browse the term
Definition:A disease characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia. (OMIM)
Synonyms:exact_synonym: SDS2
 primary_id: OMIM:617941
For additional species annotation, visit the Alliance of Genome Resources.


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Shwachman-Diamond Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME 2 ClinVar
OMIM
PMID:25741868, PMID:28331068 NCBI chr 1:144,601,425...144,740,634
Ensembl chr 1:144,601,410...144,740,735
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        Shwachman-Diamond Syndrome 2 1
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
              Shwachman-Diamond Syndrome 2 1
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.