ONTOLOGY REPORT - ANNOTATIONS


Term:proximal symphalangism
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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
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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 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        Joint Diseases 1034
          proximal symphalangism 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                proximal symphalangism 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.