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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
Definition:Thios disease is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections.
Synonyms:exact_synonym: ROCHIS;   ROIFMAN-CHITAYAT SYNDROME, DIGENIC;   combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay
 primary_id: MESH:C567641
 alt_id: OMIM:613328


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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 ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar		 PMID:19863561 PMID:29180244 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Roifman-Chitayat Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            disease of mental health 8198
              Neurodevelopmental Disorders 6745
                Developmental Disabilities 772
                  Roifman-Chitayat Syndrome 2
paths to the root