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ONTOLOGY REPORT - ANNOTATIONS
Term:junctional epidermolysis bullosa Herlitz type
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Accession:DOID:0060737 term browser browse the term
Definition:A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)
Synonyms:exact_synonym: Epidermolysis Bullosa Letali;   Herlitz-Pearson-type epidermolysis bullosa;   JEB-H;   JEB-Herlitz type;   epidermolysis bullosa junctionalis, Herlitz type;   epidermolysis bullosa letalis;   junctional epidermolysis bullosa generalisata gravis;   junctional epidermolysis bullosa gravis of Herlitz;   junctional epidermolysis bullosa, Herlitz-Pearson type;   lethal junctional epidermolysis bullosa
 primary_id: OMIM:226700
 alt_id: RDO:9003920
 xref: ORDO:79404
For additional species annotation, visit the Alliance of Genome Resources.

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junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:13592920
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:8554872
RGD:7240710
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:8554872
RGD:7240710
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        Skin Abnormalities 500
          epidermolysis bullosa 49
            junctional epidermolysis bullosa 35
              junctional epidermolysis bullosa Herlitz type 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Skin Abnormalities 500
              epidermolysis bullosa 49
                junctional epidermolysis bullosa 35
                  junctional epidermolysis bullosa Herlitz type 4
paths to the root

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