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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.


show annotations for term's descendants           Sort by:
 
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 16023
    sensory system disease 5231
      skin disease 2765
        Skin Abnormalities 659
          epidermolysis bullosa 57
            junctional epidermolysis bullosa 8
              junctional epidermolysis bullosa Herlitz type 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Skin Abnormalities 659
              epidermolysis bullosa 57
                junctional epidermolysis bullosa 8
                  junctional epidermolysis bullosa Herlitz type 4
paths to the root

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