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syndactyly type 3 - Ontology Report - Rat Genome Database

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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:syndactyly type 3
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Accession:DOID:0111817 term browser browse the term
Definition:A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)
Synonyms:exact_synonym: Ring and little finger syndactyly;   SDTY3;   Syndactyly of fingers four and five;   familial syndactyly type 3;   ringand little finger syndactyly;   syndactyly of fingers 4 and 5;   syndactyly of fingers IV and V;   syndactyly of the ring and little finger;   syndactyly type III
 primary_id: MESH:C538154
 alt_id: MIM:186100
 xref: GARD:5088;   ORDO:93404

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syndactyly type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G P GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G S Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G D GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G B GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 6:119,213,513...119,227,617 JBrowse link
G C Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G R Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 3		 OMIM
CTD
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G M Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 3		 OMIM
CTD
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G H GJA1 gap junction protein alpha 1 IAGP
EXP		 ClinVar Annotator: match by term: Syndactyly type 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      bone development disease 24312
        dysostosis 6529
          synostosis 4109
            syndactyly 1513
              syndactyly type 3 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              dysostosis 6529
                synostosis 4109
                  syndactyly 1513
                    syndactyly type 3 10
paths to the root