Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:proximal symphalangism
go back to main search page
Accession:DOID:0050788 term browser browse the term
Definition:An autosomal dominant disease 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;   Hereditary Absence of the Proximal Interphalangeal Joints;   Hereditary absence of proximal interphalangeal joints;   SYM1;   SYM1A;   SYM1B;   SYMPHALANGISM, PROXIMAL, 1A;   SYMPHALANGISM, PROXIMAL, 1B;   Strasburger-Hawkins-Eldridge syndrome;   Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome;   Vessel's syndrome
 primary_id: MESH:C536223
 alt_id: OMIM:185800;   OMIM:615298;   RDO:0001711
 xref: GARD:8182;   OMIM:PS185800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
proximal symphalangism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234
RGD:8554872
RGD:12801479
RGD:12801455
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        Joint Diseases 1056
          proximal symphalangism 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                proximal symphalangism 2
paths to the root

NHLBI Logo

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