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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      PORETTI-BOLTSHAUSER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              Hereditary Eye Diseases 495
                PORETTI-BOLTSHAUSER SYNDROME 1
paths to the root