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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: Lethal osteosclerotic bone dysplasia;   RNS
 primary_id: MESH:C535282;   RDO:0000277
 alt_id: 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 ClinVar Annotator: match by OMIM:259775
DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: Raine syndrome
ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
OMIM
ClinVar
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:24033266 PMID:25741868 PMID:28492532, PMID:17924334 RGD:11560486 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Raine Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Musculoskeletal Abnormalities 2132
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      Raine Syndrome 1
paths to the root