ONTOLOGY REPORT - ANNOTATIONS


Term:Johanson-Blizzard syndrome
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Accession:DOID:14694 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0001233
 xref: GARD:80
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Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      ectodermal dysplasia 142
        Johanson-Blizzard syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Johanson-Blizzard syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.