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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 homozygous mutation in the DNMBP gene on chromosome 10q24 and is characteriaed by infantile or early-childhood cataracts and visual impairment. (DO)
Synonyms:exact_synonym: CTRCT48
 primary_id: OMIM:618415
 alt_id: DOID:9001214
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:263,625,503...263,718,784
Ensembl chr 1:263,625,501...263,718,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        lens disease 220
          cataract 213
            cataract 48 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                cataract 48 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.