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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;   ORDO:2315
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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 15599
    syndrome 5135
      ectodermal dysplasia 249
        Johanson-Blizzard syndrome 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              developmental disorder of mental health 2691
                specific developmental disorder 1858
                  intellectual disability 1687
                    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.