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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;   acrocephalosyndactylia type V;   acrocephalosyndactyly, type 5;   acrocephalosyndactyly, type V;   type V acrocephalosyndactylies
 narrow_synonym: NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA
 primary_id: MESH:C538582
 alt_id: OMIM:101600
 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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:101600
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
OMIM
CTD
MouseDO
ClinVar
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
DNA:mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:101600
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 More... RGD:155663661, RGD:155782906 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 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        Musculoskeletal Abnormalities 3251
          synostosis 374
            acrocephalosyndactylia 88
              Pfeiffer syndrome 2
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      Skin and Connective Tissue Diseases 7379
        connective tissue disease 5731
          bone disease 4242
            bone development disease 2276
              dysostosis 575
                synostosis 374
                  craniosynostosis 314
                    acrocephalosyndactylia 88
                      Pfeiffer syndrome 2
paths to the root