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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:186570
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal carpal coalition syndrome
OMIM
ClinVar
PMID:4019538, PMID:7557985, PMID:10080184, PMID:11545688, PMID:17245852, PMID:25741868, PMID:26211601 RGD:12801450 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      auditory system disease 754
        tarsal-carpal coalition syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    tarsal-carpal coalition syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.