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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 PMID:25735804 PMID:25741868 PMID:26522830 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:32581362 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Roifman Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    syndromic intellectual disability 693
                      Mental Retardation, X-Linked 669
                        Roifman Syndrome 1
paths to the root