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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: ICD10CM:Q81.1;   ORDO:79404
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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 15603
    sensory system disease 4697
      skin disease 2470
        Skin Abnormalities 505
          epidermolysis bullosa 49
            junctional epidermolysis bullosa 35
              junctional epidermolysis bullosa Herlitz type 4
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          skin disease 2470
            Skin Abnormalities 505
              epidermolysis bullosa 49
                junctional epidermolysis bullosa 35
                  junctional epidermolysis bullosa Herlitz type 4
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.