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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:geleophysic dysplasia 3
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Accession:DOID:0111727 term browser browse the term
Definition:A geleophysic dysplasia that has_material_basis_in heterozygous mutation in LTBP3 on chromosome 11q13.1. (DO)
Synonyms:exact_synonym: GPHYSD3
 primary_id: OMIM:617809
For additional species annotation, visit the Alliance of Genome Resources.


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geleophysic dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: GELEOPHYSIC DYSPLASIA 3 ClinVar
OMIM
PMID:25741868 PMID:27068007 PMID:28492532 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Growth Disorders 782
          geleophysic dysplasia 3
            geleophysic dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                acromicric dysplasia 5
                  geleophysic dysplasia 3
                    geleophysic dysplasia 3 1
paths to the root