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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
ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      SADDAN 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                achondroplasia 11
                  SADDAN 1
paths to the root