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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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:tarsal-carpal coalition syndrome
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Accession:DOID:0050789 term browser browse the term
Definition:A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)
Synonyms:exact_synonym: NOG-Related-Symphalangism Spectrum Disorder;   TCC
 related_synonym: synostosis of talus and calcaneus with short stature
 xref: GARD:9225;   MESH:C536943;   MONDO:0008521;   OMIM:186570;   ORDO:1412


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tarsal-carpal coalition syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      Congenital Foot Deformities 175
        tarsal-carpal coalition syndrome 1
          Synostosis of Talus and Calcaneus with Short Stature 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    tarsal-carpal coalition syndrome 1
                      Synostosis of Talus and Calcaneus with Short Stature 0
paths to the root