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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 AP002409.1 novel transcript, antisense to LAMA1 IAGP ClinVar Annotator: match by term: Poretti-Boltshauser syndrome ClinVar PMID:24033266 PMID:25105227 NCBI chr18:6,954,677...6,957,419
Ensembl chr18:6,954,677...6,957,419 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP ClinVar Annotator: match by term: Poretti-Boltshauser syndrome
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 chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G LOC112543434 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:7038146-7039345 IAGP ClinVar Annotator: match by term: Poretti-Boltshauser syndrome ClinVar PMID:25105227 NCBI chr18:7,038,101...7,039,346 JBrowse link
G LOC126862685 BRD4-independent group 4 enhancer GRCh37_chr18:6958646-6959845 IAGP ClinVar Annotator: match by term: LAMA1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr18:6,958,647...6,959,846 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      PORETTI-BOLTSHAUSER SYNDROME 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              Hereditary Eye Diseases 1625
                PORETTI-BOLTSHAUSER SYNDROME 4
paths to the root