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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:spondylometaphyseal dysplasia with corneal dystrophy
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Accession:DOID:0112303 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1. (DO)
Synonyms:exact_synonym: SMDCD
 primary_id: OMIM:618961
 alt_id: DOID:9006773
For additional species annotation, visit the Alliance of Genome Resources.



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spondylometaphyseal dysplasia with corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy OMIM
ClinVar
PMID:29122926 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    sensory system disease 6432
      eye disease 2959
        Hereditary Eye Diseases 755
          corneal dystrophy 51
            spondylometaphyseal dysplasia with corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      musculoskeletal system disease 7280
        connective tissue disease 5140
          bone disease 3815
            bone development disease 1885
              osteochondrodysplasia 618
                spondylometaphyseal dysplasia 14
                  spondylometaphyseal dysplasia with corneal dystrophy 1
paths to the root