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RGD uses the Human Disease Ontology (DO, 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:Johanson-Blizzard syndrome
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Accession:DOID:14694 term browser browse the term
Definition:A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. (DO)
Synonyms:exact_synonym: JBS;   ectodermal dysplasia-exocrine pancreatic insufficiency;   malabsorption-ectodermal dysplasia-nasal alar hypoplasia;   nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness;   nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness
 primary_id: MESH:C535880
 alt_id: OMIM:243800
 xref: GARD:80;   ORDO:2315
For additional species annotation, visit the Alliance of Genome Resources.

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Johanson-Blizzard syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
ClinVar Annotator: match by term: Johanson-Blizzard syndrome
DNA:splice-site mutation:cds:IVS26+5G>A (human)
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
CTD Direct Evidence: marker/mechanism
PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... RGD:155882462, RGD:155882463 NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Johanson-Blizzard syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            Otorhinolaryngologic Diseases 1700
              auditory system disease 956
                Hearing Disorders 785
                  Hearing Loss 781
                    sensorineural hearing loss 595
                      Johanson-Blizzard syndrome 1
paths to the root