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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:junctional epidermolysis bullosa non-Herlitz type
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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
 xref: ORDO:79402;   ORDO:89840
For additional species annotation, visit the Alliance of Genome Resources.

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junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, localisata variant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650
ClinVar Annotator: match by synonym: Epidermolysis bullosa, junctional, localisata variant		 OMIM
ClinVar
CTD		 PMID:7092249 PMID:7550320 PMID:9012408 PMID:9077475 PMID:9199555 PMID:9204958 PMID:9457913 PMID:9457914 PMID:9583744 PMID:9740252 PMID:10398261 PMID:10577906 PMID:10636730 PMID:10951237 PMID:11406649 PMID:12813757 PMID:14614394 PMID:16354180 PMID:19340010 PMID:21357940 PMID:24033266 PMID:24550734 PMID:24668667 PMID:24814191 PMID:25741868 PMID:25803036 PMID:28492532 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by OMIM:226650 OMIM
ClinVar		 PMID:10792571 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
ClinVar Annotator: match by OMIM:226650		 OMIM
ClinVar		 PMID:11810295 PMID:16473856 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by OMIM:226650
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 OMIM
ClinVar		 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9501007 PMID:9690563 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:17115047 PMID:17476356 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24617447 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:226650		 OMIM
ClinVar
CTD		 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16473856 PMID:24550734 PMID:28492532 PMID:28830826 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        Skin Abnormalities 617
          epidermolysis bullosa 58
            junctional epidermolysis bullosa 8
              junctional epidermolysis bullosa non-Herlitz type 5
                Epidermolysis Bullosa Inversa Dystrophica 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            dermatitis 419
              bullous skin disease 118
                vesiculobullous skin disease 104
                  epidermolysis bullosa 58
                    junctional epidermolysis bullosa 8
                      junctional epidermolysis bullosa non-Herlitz type 5
                        Epidermolysis Bullosa Inversa Dystrophica 0
paths to the root