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ONTOLOGY REPORT - ANNOTATIONS


Term:Deafness Enamel Hypoplasia Nail Defects
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Accession:DOID:9004220 term browser browse the term
Synonyms:exact_synonym: Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects;   HEIMLER SYNDROME 1;   HMLR1;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects;   Heimler syndrome;   PBD1C;   PEROXISOME BIOGENESIS DISORDER 1C;   Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
 primary_id: MESH:C535994;   RDO:0001393
 alt_id: OMIM:234580
For additional species annotation, visit the Alliance of Genome Resources.


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Deafness Enamel Hypoplasia Nail Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Anatomical Pathological Conditions 1323
        Malformed Nails 20
          Deafness Enamel Hypoplasia Nail Defects 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          mouth disease 678
            tooth disease 238
              teeth hard tissue disease 38
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    Deafness Enamel Hypoplasia Nail Defects 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.