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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:visual impairment and progressive phthisis bulbi
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Accession:DOID:0070356 term browser browse the term
Definition:An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (DO)
Synonyms:exact_synonym: VIPB
 primary_id: OMIM:618283
For additional species annotation, visit the Alliance of Genome Resources.


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visual impairment and progressive phthisis bulbi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI ClinVar
OMIM
PMID:29771303 NCBI chr 6:136,040,957...136,129,780
Ensembl chr 6:136,041,777...136,129,661
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        blindness 99
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                visual impairment and progressive phthisis bulbi 1
paths to the root