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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
 broad_synonym: MAP3K20-related condition
 xref: MIM:616890;   MONDO:0014860


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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:26755636 PMID:27816943 PMID:28492532 PMID:30237576 More... NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      polydactyly 386
        Split-Foot Malformation with Mesoaxial Polydactyly 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Musculoskeletal Abnormalities 3467
            Congenital Limb Deformities 1072
              split hand-foot malformation 65
                Split-Foot Malformation with Mesoaxial Polydactyly 1
paths to the root