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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:Flatfoot
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Accession:DOID:9007573 term browser browse the term
Definition:A foot anomaly in which one or more of the arches of the foot have flattened out.
Synonyms:exact_synonym: Acquired Adult Flatfoot Deformity;   CALCANEOVALGUS DEFORMITY;   Convex Foot;   Convex Pes Valgus;   Flat Feet;   Flat Foot;   Flatfeet;   Flexible Flatfoot;   Pes Planus;   Rigid Flatfoot;   Talipes Calcaneovalgus;   Talipes Valgus;   Vertical Talus
 primary_id: MESH:D005413
 xref: EFO:0003874

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show annotations for term's descendants           Sort by:
Flatfoot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chrNW_004936509:5,603,661...5,606,850
Ensembl chrNW_004936509:5,603,642...5,606,850 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chrNW_004936606:4,969,282...4,972,383
Ensembl chrNW_004936606:4,969,787...4,971,446 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      Congenital Foot Deformities 170
        Talipes 47
          Flatfoot 6
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7058
          Musculoskeletal Abnormalities 3132
            Congenital Limb Deformities 975
              Lower Extremity Deformities, Congenital 178
                Congenital Foot Deformities 170
                  Talipes 47
                    Flatfoot 6
paths to the root