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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
 primary_id: MESH:C536943
 alt_id: OMIM:186570
 xref: GARD:9225;   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 ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      Congenital Foot Deformities 170
        tarsal-carpal coalition syndrome 1
          Synostosis of Talus and Calcaneus with Short Stature 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              dysostosis 542
                synostosis 353
                  syndactyly 137
                    tarsal-carpal coalition syndrome 1
                      Synostosis of Talus and Calcaneus with Short Stature 0
paths to the root