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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:SADDAN
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Accession:DOID:0111158 term browser browse the term
Definition:A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: SADDAN dysplasia;   SADDAN dysplasias;   severe achondroplasia with developmental delay and acanthosis nigricans
 primary_id: OMIM:616482
 xref: GARD:9443;   ORDO:85165
For additional species annotation, visit the Alliance of Genome Resources.


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SADDAN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: SADDAN dysplasia OMIM
ClinVar
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:17875876, PMID:18583390, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:25809207, PMID:26619011, PMID:26818779, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      SADDAN 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                achondroplasia 11
                  SADDAN 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.