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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 LMBR1 on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: Haas Type Syndactyly;   Polysyndactyly, Haas Type;   SD4;   SDTY4;   syndactyly type IV
 primary_id: MESH:C566092
 alt_id: OMIM:186200
 xref: GARD:4434;   ORDO:93405
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
syndactyly type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
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G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      polydactyly 120
        syndactyly type 4 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              dysostosis 381
                synostosis 229
                  syndactyly 60
                    syndactyly type 4 2
paths to the root