ONTOLOGY REPORT - ANNOTATIONS


Term:tarsal-carpal coalition syndrome
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Accession:DOID:0050789 term browser browse the term
Definition:An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)
Synonyms:exact_synonym: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES;   Stapes Ankylosis Syndrome Without Symphalangism;   TCC;   Teunissen-Cremers syndrome;   ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly;   facioaudiosymphalangism syndrome;   multiple synostoses syndrome 1;   multiple synostoses with brachydactyly;   symphalangism-brachydactyly syndrome
 narrow_synonym: synostosis of talus and calcaneus with short stature
 primary_id: MESH:C536943
 alt_id: OMIM:184460;   OMIM:186570;   RDO:0002671;   RDO:0008164
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tarsal-carpal coalition syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801450

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  disease 14875
    sensory system disease 4246
      auditory system disease 662
        tarsal-carpal coalition syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    tarsal-carpal coalition syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.