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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: LAMA1-RELATED CONDITION;   PTBHS
 primary_id: OMIM:615960;   RDO:9001523


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PORETTI-BOLTSHAUSER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: LAMA1-related condition | ClinVar Annotator: match by term: Poretti-Boltshauser syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25105227 More... NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      PORETTI-BOLTSHAUSER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Hereditary Eye Diseases 1097
                PORETTI-BOLTSHAUSER SYNDROME 1
paths to the root