Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:25741868 PMID:29771303 NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      eye disease 2937
        blindness 202
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                visual impairment and progressive phthisis bulbi 1
paths to the root