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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:cataract 48
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Accession:DOID:0070354 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. (DO)
Synonyms:exact_synonym: CTRCT48
 primary_id: OMIM:618415
 alt_id: DOID:9001214

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cataract 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMBP dynamin binding protein ISO ClinVar Annotator: match by term: Cataract 48 OMIM
ClinVar		 PMID:25741868 PMID:30290152 NCBI chr 9:92,926,283...93,048,228
Ensembl chr 9:92,923,953...93,047,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        lens disease 412
          cataract 402
            cataract 48 1
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 48 1
paths to the root