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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;   Hereditary absence of proximal interphalangeal joints;   SYM1;   SYM1A;   SYM1B;   Strasburger-Hawkins-Eldridge syndrome;   Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome;   Vessel's syndrome;   hereditary absence of the proximal interphalangeal joints;   proximal symphalangism, 1A;   proximal symphalangism, 1B
 primary_id: MESH:C536223
 alt_id: OMIM:185800;   OMIM:615298
 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
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234

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Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      proximal symphalangism 2
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                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.