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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:Split-Foot Malformation with Mesoaxial Polydactyly
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Accession:DOID:9008338 term browser browse the term
Synonyms:exact_synonym: SFMMP
 primary_id: OMIM:616890

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Split-Foot Malformation with Mesoaxial Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26755636 PMID:28492532 PMID:30237576 More... NCBI chrNW_004955449:1,976,186...2,139,044 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      polydactyly 351
        Split-Foot Malformation with Mesoaxial Polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Congenital Abnormalities 6943
          Musculoskeletal Abnormalities 3090
            Congenital Limb Deformities 968
              split hand-foot malformation 62
                Split-Foot Malformation with Mesoaxial Polydactyly 1
paths to the root