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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:Pfeiffer syndrome
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Accession:DOID:14705 term browser browse the term
Definition:An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: ACS V;   ACS5;   Pfeiffer type acrocephalosyndactyly;   Type V acrocephalosyndactylies;   acrocephalosyndactylia type V;   acrocephalosyndactyly, type 5;   acrocephalosyndactyly, type V
 narrow_synonym: NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA
 primary_id: MESH:C538582
 alt_id: OMIM:101600;   RDO:0004514
 xref: GARD:7380;   NCI:C99100;   ORDO:710
For additional species annotation, visit the Alliance of Genome Resources.



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Pfeiffer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Pfeiffer syndrome
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5
ClinVar Annotator: match by term: ACS V
OMIM
ClinVar
PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      chromosomal duplication syndrome 755
        syndactyly 62
          acrocephalosyndactylia 8
            Pfeiffer syndrome 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Skin and Connective Tissue Diseases 5840
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    acrocephalosyndactylia 8
                      Pfeiffer syndrome 2
paths to the root