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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 IAGP
EXP		 DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7138
      Congenital Foot Deformities 219
        tarsal-carpal coalition syndrome 1
          Synostosis of Talus and Calcaneus with Short Stature 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      musculoskeletal system disease 11647
        connective tissue disease 7450
          bone disease 5604
            bone development disease 3275
              dysostosis 857
                synostosis 555
                  syndactyly 183
                    tarsal-carpal coalition syndrome 1
                      Synostosis of Talus and Calcaneus with Short Stature 0
paths to the root