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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:syndactyly type 4
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Accession:DOID:0111818 term browser browse the term
Definition:A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: Haas type polysyndactyly;   Haas type syndactyly;   SD4;   SDTY4;   syndactyly type IV
 primary_id: MESH:C566092
 alt_id: OMIM:186200
 xref: GARD:4434;   ORDO:93405


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syndactyly type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: Syndactyly type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,481,000...29,485,295
Ensembl chr 5:29,481,000...29,485,295 		JBrowse link
G Shh sonic hedgehog ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    physical disorder 5003
      polydactyly 367
        syndactyly type 4 2
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      musculoskeletal system disease 7936
        connective tissue disease 5397
          bone disease 3902
            bone development disease 2297
              dysostosis 578
                synostosis 377
                  syndactyly 145
                    syndactyly type 4 2
paths to the root