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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 Cone-Rod Dystrophy
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Accession:DOID:9005400 term browser browse the term
Synonyms:exact_synonym: SMD-CRD;   SMDCRD
 primary_id: MESH:C563825;   RDO:0012986
 alt_id: OMIM:608940
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha ISO ClinVar Annotator: match by OMIM:608940
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with cone-rod dystrophy
OMIM
ClinVar
PMID:8663247, PMID:15326626, PMID:21412974, PMID:24267886, PMID:24387990, PMID:24387991, PMID:28272537, PMID:28492532 NCBI chr11:71,547,865...71,592,037
Ensembl chr11:71,548,222...71,591,502
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 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.