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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:Raine Syndrome
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Accession:DOID:9000666 term browser browse the term
Synonyms:exact_synonym: CSOCC;   Lethal osteosclerotic bone dysplasia;   RNS;   sclerosing osteomalacia with cerebral calcification
 primary_id: MESH:C535282
 alt_id: DOID:9002952;   MESH:C564916;   OMIM:259775
For additional species annotation, visit the Alliance of Genome Resources.



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Raine Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
OMIM
ClinVar
RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      orofacial cleft 135
        cleft palate 103
          Raine Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        acquired metabolic disease 2138
          nutrition disease 1037
            Malnutrition 308
              nutritional deficiency disease 299
                Avitaminosis 195
                  Vitamin D Deficiency 34
                    rickets 29
                      osteomalacia 3
                        Raine Syndrome 1
paths to the root