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RGD uses the Human Disease Ontology (DO, 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:proximal symphalangism
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Accession:DOID:0050788 term browser browse the term
Definition:A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)
Synonyms:exact_synonym: Cushing Symphalangism;   Cushing's symphalangism;   Strasburger-Hawkins-Eldridge syndrome;   Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome;   Vessel's syndrome;   hereditary absence of proximal interphalangeal joints;   hereditary absence of the proximal interphalangeal joints
 primary_id: MESH:C536223
 xref: GARD:8182;   OMIM:PS185800;   ORDO:3250
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
proximal symphalangism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by OMIM:615298 OMIM
PMID:16127465, PMID:16532400, PMID:16892395, PMID:18283415 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Proximal symphalangism
ClinVar Annotator: match by term: Cushing's symphalangism
DNA:missense mutation:cds:c.499C>T(p.R167C)human
DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)
ClinVar Annotator: match by OMIM:185800
PMID:7557985, PMID:9851982, PMID:10080184, PMID:11160400, PMID:11545688, PMID:11846737, PMID:11857750, PMID:17245852, PMID:17668388, PMID:18440889, PMID:10080184, PMID:24326127, PMID:11846737 RGD:1600234, RGD:12801479, RGD:12801455 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      proximal symphalangism 2
        proximal symphalangism 1 0
        proximal symphalangism 2 0
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                proximal symphalangism 2
                  proximal symphalangism 1 0
                  proximal symphalangism 2 0
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.