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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:Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis
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Accession:DOID:9007299 term browser browse the term
Synonyms:xref: MIM:PS301108


show annotations for term's descendants           Sort by:
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr 3:99,066,857...99,067,942 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      nephrotic syndrome 174
        Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2
          Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 1
          Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2
                      Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 1
                      Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 1
paths to the root