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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:Ritscher-Schinzel syndrome 2
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Accession:DOID:0060572 term browser browse the term
Definition:An X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. (OMIM)
Synonyms:exact_synonym: RTSC2
 primary_id: OMIM:300963
 alt_id: RDO:9000778
For additional species annotation, visit the Alliance of Genome Resources.


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Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2
ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2
OMIM
ClinVar
PMID:19377476, PMID:21826058, PMID:24916641, PMID:25741868 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              heart septal defect 151
                atrial heart septal defect 95
                  Ritscher-Schinzel syndrome 3
                    Ritscher-Schinzel syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.