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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



show annotations for term's descendants           Sort by:
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    physical disorder 4940
      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 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        connective tissue disease 5731
          bone disease 4242
            bone development disease 2276
              dysostosis 575
                synostosis 374
                  syndactyly 147
                    tarsal-carpal coalition syndrome 1
                      Synostosis of Talus and Calcaneus with Short Stature 0
paths to the root