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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
 broad_synonym: WNT10B-RELATED CONDITION
 primary_id: MESH:C567616
 alt_id: MIM:225300


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Split hand-foot malformation 6 | ClinVar Annotator: match by term: WNT10B-related condition 		OMIM
CTD
ClinVar		 PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:27321946 More... NCBI chr 7:131,801,046...131,806,850
Ensembl chr 7:131,801,046...131,806,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        split hand-foot malformation 65
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                split hand-foot malformation 6 1
paths to the root