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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;   RDO:0012018
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 OMIM:225300
ClinVar Annotator: match by null
ClinVar Annotator: match by term: ECTRODACTYLY, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:12072797, PMID:18515319, PMID:20635353, PMID:25741868 NCBI chr 7:140,448,284...140,466,159
Ensembl chr 7:140,448,465...140,454,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        split hand-foot malformation 13
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                split hand-foot malformation 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.