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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-Chitayat Syndrome
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Accession:DOID:9000886 term browser browse the term
Synonyms:exact_synonym: ROCHIS;   combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay
 primary_id: MESH:C567641
 alt_id: OMIM:613328
For additional species annotation, visit the Alliance of Genome Resources.


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Roifman-Chitayat Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO OMIM NCBI chr 3:110,618,256...110,638,024
Ensembl chr 3:110,618,298...110,638,046
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO OMIM NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Roifman-Chitayat Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              Neurodevelopmental Disorders 5664
                Developmental Disabilities 525
                  Roifman-Chitayat Syndrome 2
paths to the root