ONTOLOGY REPORT - ANNOTATIONS


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
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Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Cardiovascular Abnormalities 782
            congenital heart disease 731
              heart septal defect 173
                atrial heart septal defect 60
                  Ritscher-Schinzel syndrome 2
                    Ritscher-Schinzel syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.