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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;   lethal junctional epidermolysis bullosa
 primary_id: OMIM:226700
 alt_id: RDO:9003920
 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 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 PMID:8983017 PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16473856 PMID:16971478 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 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 term: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 PMID:8755931 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9457915 PMID:9579554 PMID:9690563 PMID:9767254 PMID:9856852 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16403119 PMID:16439963 PMID:16473856 PMID:16971478 PMID:17476356 PMID:17916201 PMID:21801158 PMID:22931927 PMID:23278291 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28392661 PMID:28492532 PMID:28830826 PMID:29334134 PMID:29900604 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: Herlitz-type junctional epidermolysis bullosa
ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar
OMIM
PMID:7849725 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255 PMID:10951251 PMID:11231327 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15373767 PMID:16473856 PMID:17916201 PMID:25741868 PMID:27696112 PMID:28492532 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 16085
    sensory system disease 5285
      skin disease 2775
        Skin Abnormalities 654
          epidermolysis bullosa 57
            junctional epidermolysis bullosa 8
              junctional epidermolysis bullosa Herlitz type 4
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            dermatitis 429
              bullous skin disease 117
                vesiculobullous skin disease 103
                  epidermolysis bullosa 57
                    junctional epidermolysis bullosa 8
                      junctional epidermolysis bullosa Herlitz type 4
paths to the root