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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:Hammer Toe Syndrome
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Accession:DOID:9005398 term browser browse the term
Definition:A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe.
Synonyms:exact_synonym: Claw Toe;   Claw Toes;   Clawtoe;   Clawtoes;   Hammer Toe;   Hammer Toes;   Hammertoe Syndrome;   Mallet Toe;   Mallet Toes
 primary_id: MESH:D037801;   RDO:0007493
For additional species annotation, visit the Alliance of Genome Resources.


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Hammer Toe Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:16096811 PMID:21291455 PMID:22243284 PMID:25388846 PMID:25741868 PMID:26467025 PMID:28448691 PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:14506069 PMID:25741868 PMID:28492532 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Hammer Toe Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        Foot Deformities 70
          Hammer Toe Syndrome 2
paths to the root