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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



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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 IAGP ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi
ClinVar
OMIM
PMID:25741868 PMID:29771303 NCBI chr14:103,385,415...103,503,831
Ensembl chr14:103,385,377...103,503,831
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    sensory system disease 9668
      Vision Disorders 361
        blindness 281
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Neurologic Manifestations 15108
          sensory system disease 9668
            eye disease 4877
              Vision Disorders 361
                blindness 281
                  visual impairment and progressive phthisis bulbi 1
paths to the root