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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;   FAM20C-RELATED CONDITION;   Lethal osteosclerotic bone dysplasia;   RNS;   sclerosing osteomalacia with cerebral calcification
 primary_id: MESH:C535282
 alt_id: DOID:9002952;   MESH:C564916;   OMIM:259775


show annotations for term's descendants           Sort by:
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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia		 OMIM
CTD
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        orbital disease 101
          Raine Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          nutrition disease 1022
            Malnutrition 273
              nutritional deficiency disease 256
                Avitaminosis 216
                  Vitamin D Deficiency 38
                    rickets 29
                      osteomalacia 3
                        Raine Syndrome 1
paths to the root