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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 1
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Accession:DOID:9000594 term browser browse the term
Definition:An X-linked syndromic disorder that is phenotypically more severe in males than females. Caused by hemizygous or heterozygous mutation in the DKC1 gene on chromosome Xq28.
Synonyms:exact_synonym: CHINE1
 broad_synonym: DKC1-RELATED CONDITION
 primary_id: OMIM:301108


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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 IAGP ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18080
      nephrotic syndrome 206
        Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2
          Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        Neurologic Manifestations 15391
          sensory system disease 9738
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2
                      Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 1
paths to the root