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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly
ClinVar
OMIM
PMID:25741868 PMID:26755636 NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      polydactyly 120
        Split-Foot Malformation with Mesoaxial Polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Congenital Abnormalities 5194
          Musculoskeletal Abnormalities 2135
            Congenital Limb Deformities 453
              split hand-foot malformation 14
                Split-Foot Malformation with Mesoaxial Polydactyly 1
paths to the root