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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:Triphalangeal Thumb
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Accession:DOID:9001425 term browser browse the term
Synonyms:primary_id: MESH:C573898;   RDO:0015779


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Triphalangeal Thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb ClinVar PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:22340503 More... NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        Hand Deformities 206
          Congenital Hand Deformities 203
            Triphalangeal Thumb 1
              Non Opposable Triphalangeal Thumb 0
              Triphalangeal Thumb with Double Phalanges 0
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Congenital Limb Deformities 1068
              Congenital Upper Extremity Deformities 232
                Congenital Hand Deformities 203
                  Triphalangeal Thumb 1
                    Non Opposable Triphalangeal Thumb 0
                    Triphalangeal Thumb with Double Phalanges 0
paths to the root