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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;   MIM:186570;   MONDO:0008521;   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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome 		OMIM
CTD
ClinVar
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      auditory system disease 1073
        tarsal-carpal coalition syndrome 1
          Synostosis of Talus and Calcaneus with Short Stature 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  syndactyly 152
                    tarsal-carpal coalition syndrome 1
                      Synostosis of Talus and Calcaneus with Short Stature 0
paths to the root