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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: JEB-nH gen;   JEN-nH;   epidermolysis bullosa junctionalis, Disentis type;   epidermolysis bullosa junctionalis, non-Herlitz type;   epidermolysis bullosa junctionalis, severe nonlethal;   generalized junctional epidermolysis bullosa, non-Herlitz type;   junctional epidermolysis bullosa generalisata mitis;   junctional epidermolysis bullosa, Disentis type;   progressive epidermolysis bullosa junctionalis
 narrow_synonym: JEB-I;   junctional epidermolysis bullosa inversa
 primary_id: MESH:C562639
 xref: ORDO:79402;   ORDO:89840
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 CTD
ClinVar		 PMID:9077475 PMID:9204958 PMID:9583744 PMID:10636730 PMID:11406649 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650		 ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
OMIM:226650		 ClinVar
MouseDO		 PMID:24033266 PMID:25363238 PMID:25741868 PMID:28492532 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 CTD
ClinVar		 PMID:11564184 PMID:24550734 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 1A, Intermediate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO OMIM NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
Junctional Epidermolysis Bullosa 2A, Intermediate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar		 PMID:11810295 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Junctional Epidermolysis Bullosa 3A, Intermediate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate OMIM
ClinVar		 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 4, Intermediate 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: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar		 PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
Junctional Epidermolysis Bullosa 5A, Intermediate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate OMIM
ClinVar		 PMID:9546354 PMID:9892956 PMID:10792571 PMID:12485428 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      skin disease 3782
        Skin Abnormalities 1077
          epidermolysis bullosa 81
            junctional epidermolysis bullosa 9
              junctional epidermolysis bullosa non-Herlitz type 6
                Epidermolysis Bullosa Inversa Dystrophica 0
                Junctional Epidermolysis Bullosa 1A, Intermediate 1
                Junctional Epidermolysis Bullosa 2A, Intermediate 1
                Junctional Epidermolysis Bullosa 3A, Intermediate 1
                Junctional Epidermolysis Bullosa 4, Intermediate 1
                Junctional Epidermolysis Bullosa 5A, Intermediate 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            dermatitis 464
              bullous skin disease 151
                vesiculobullous skin disease 138
                  epidermolysis bullosa 81
                    junctional epidermolysis bullosa 9
                      junctional epidermolysis bullosa non-Herlitz type 6
                        Epidermolysis Bullosa Inversa Dystrophica 0
                        Junctional Epidermolysis Bullosa 1A, Intermediate 1
                        Junctional Epidermolysis Bullosa 2A, Intermediate 1
                        Junctional Epidermolysis Bullosa 3A, Intermediate 1
                        Junctional Epidermolysis Bullosa 4, Intermediate 1
                        Junctional Epidermolysis Bullosa 5A, Intermediate 1
paths to the root