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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: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 OMIM:243800
ClinVar Annotator: match by term: Johanson-Blizzard syndrome
OMIM
ClinVar
PMID:16311597, PMID:18553553, PMID:19006206, PMID:24033266, PMID:25741868 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Johanson-Blizzard syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Johanson-Blizzard syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.