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;   PSEUDO-TORCH SYNDROME;   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
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Aicardi-Goutieres syndrome 11
        pseudo-TORCH syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          mineral metabolism disease 409
            calcium metabolism disease 262
              calcinosis 231
                basal ganglia calcification 24
                  Aicardi-Goutieres syndrome 11
                    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.