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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 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;   junctional epidermolysis bullosa, generalized severe;   lethal junctional epidermolysis bullosa
 xref: ICD10CM:Q81.1;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga6 integrin subunit alpha 6 ISS OMIM:226700 MouseDO NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Lama3 laminin subunit alpha 3 ISS
ISO		 OMIM:226700
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz		 MouseDO
ClinVar		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... 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
ISS		 ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
OMIM:226700		 ClinVar
MouseDO		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 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 ISS
ISO		 OMIM:226700
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz		 MouseDO
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Junctional Epidermolysis Bullosa 1B, Severe 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 1B, SEVERE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... 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 OMIM NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe 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 2B, severe OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Junctional Epidermolysis Bullosa 3B, Severe 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 3B, severe OMIM
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      skin disease 3771
        Skin Abnormalities 1054
          epidermolysis bullosa 80
            junctional epidermolysis bullosa 9
              junctional epidermolysis bullosa Herlitz type 4
                Junctional Epidermolysis Bullosa 1B, Severe 2
                Junctional Epidermolysis Bullosa 2B, Severe 1
                Junctional Epidermolysis Bullosa 3B, Severe 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          skin disease 3771
            dermatitis 461
              bullous skin disease 150
                vesiculobullous skin disease 137
                  epidermolysis bullosa 80
                    junctional epidermolysis bullosa 9
                      junctional epidermolysis bullosa Herlitz type 4
                        Junctional Epidermolysis Bullosa 1B, Severe 2
                        Junctional Epidermolysis Bullosa 2B, Severe 1
                        Junctional Epidermolysis Bullosa 3B, Severe 1
paths to the root