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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:Roifman Syndrome
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Accession:DOID:9002458 term browser browse the term
Synonyms:exact_synonym: RFMN;   SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY;   Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency
 primary_id: MESH:C535866;   RDO:0001208
 alt_id: OMIM:616651
For additional species annotation, visit the Alliance of Genome Resources.



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Roifman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Roifman syndrome ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Roifman Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 718
                        Roifman Syndrome 1
paths to the root