ONTOLOGY REPORT - ANNOTATIONS


Term:PORETTI-BOLTSHAUSER SYNDROME
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Accession:DOID:9008073 term browser browse the term
Definition:An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. (OMIM)
Synonyms:exact_synonym: PTBHS
 primary_id: OMIM:615960;   RDO:9001523
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PORETTI-BOLTSHAUSER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama1 laminin subunit alpha 1 JBrowse link 9 115,916,907 116,042,123 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      PORETTI-BOLTSHAUSER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Hereditary Eye Diseases 503
                PORETTI-BOLTSHAUSER SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.