ONTOLOGY REPORT - ANNOTATIONS


Term:pseudo-TORCH syndrome 1
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Accession:DOID:0050656 term browser browse the term
Definition:An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria. (DO)
Synonyms:exact_synonym: BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;   BLCPMG;   PTORCH1
 primary_id: OMIM:251290
 alt_id: RDO:0009871
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pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:7240710
RGD:8554872

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Path 1
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  disease 14926
    syndrome 4715
      Pseudo-TORCH Syndrome 2
        pseudo-TORCH syndrome 1 1
Path 2
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  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              Neurodevelopmental Disorders 2768
                Developmental Disabilities 346
                  Pseudo-TORCH Syndrome 2
                    pseudo-TORCH syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.