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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 hand-foot malformation 6
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Accession:DOID:0090026 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: Ectrodactyly, Autosomal Recessive;   SHFM6
 primary_id: MESH:C567616
 alt_id: OMIM:225300
For additional species annotation, visit the Alliance of Genome Resources.



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split hand-foot malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Split hand-foot malformation 6 OMIM
ClinVar
PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:28492532 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      bone development disease 1807
        split hand-foot malformation 15
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                split hand-foot malformation 6 1
paths to the root