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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: MIM:619377
 xref: NCI:C201597


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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:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Osteootohepatoenteric Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Neurologic Manifestations 10322
          sensory system disease 7235
            Otorhinolaryngologic Diseases 1785
              auditory system disease 1047
                Hearing Disorders 835
                  Hearing Loss 830
                    Osteootohepatoenteric Syndrome 1
paths to the root