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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: PTBHS
 primary_id: OMIM:615960;   RDO:9001523
For additional species annotation, visit the Alliance of Genome Resources.


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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: Poretti-boltshauser syndrome
ClinVar Annotator: match by term: Poretti-Boltshauser syndrome
ClinVar
OMIM
PMID:24033266, PMID:25105227, PMID:25741868 NCBI chr 9:115,916,907...116,042,123
Ensembl chr 9:115,916,907...116,042,123
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      PORETTI-BOLTSHAUSER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            Hereditary Eye Diseases 572
              PORETTI-BOLTSHAUSER SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.