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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:Osteootohepatoenteric Syndrome
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Accession:DOID:9004291 term browser browse the term
Definition:Characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Caused by compound heterozygous mutation in the UNC45A gene on chromosome 15q26. (OMIM)
Synonyms:exact_synonym: O2HE;   OOHE;   osteo-oto-hepato-enteric syndrome
 primary_id: OMIM:619377
For additional species annotation, visit the Alliance of Genome Resources.


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Osteootohepatoenteric Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: OSTEOOTOHEPATOENTERIC SYNDROME OMIM
ClinVar
PMID:29429573 NCBI chr 1:142,118,910...142,135,219
Ensembl chr 1:142,118,917...142,133,627
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    syndrome 8040
      Osteootohepatoenteric Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        sensory system disease 5597
          Otorhinolaryngologic Diseases 1333
            auditory system disease 903
              Hearing Disorders 736
                Hearing Loss 732
                  Osteootohepatoenteric Syndrome 1
paths to the root