Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:junctional epidermolysis bullosa non-Herlitz type
go back to main search page
Accession:DOID:0060738 term browser browse the term
Definition:A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)
Synonyms:exact_synonym: GABEB;   JEB-nH gen;   JEN-nH;   epidermolysis bullosa junctionalis, Disentis type;   epidermolysis bullosa junctionalis, non-Herlitz type;   epidermolysis bullosa junctionalis, severe nonlethal;   generalized atrophic benign epidermolysis bullosa;   generalized junctional epidermolysis bullosa, non-Herlitz type;   junctional epidermolysis bullosa generalisata mitis;   junctional epidermolysis bullosa, Disentis type;   junctional epidermolysis bullosa, localisata variant;   progressive epidermolysis bullosa junctionalis
 narrow_synonym: JEB-I;   junctional epidermolysis bullosa inversa
 primary_id: MESH:C562639
 alt_id: OMIM:226650;   RDO:0012261
 xref: ORDO:79402;   ORDO:89840
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:7240710
RGD:8554872
RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:7240710
RGD:8554872
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:7240710
RGD:8554872
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:7240710
RGD:8554872
RGD:11554173

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 non-Herlitz type 5
                Epidermolysis Bullosa Inversa Dystrophica 0
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 non-Herlitz type 5
                    Epidermolysis Bullosa Inversa Dystrophica 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.