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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 4, Intermediate
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Accession:DOID:9000413 term browser browse the term
Definition:An autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Caused by homozygous or compound heterozygous mutation in the COL17A1 gene on chromosome 10q25.
Synonyms:exact_synonym: GABEB;   JEB4;   Junctional Epidermolysis Bullosa 4, Non-Herlitz Type;   generalized atrophic benign epidermolysis bullosa;   junctional epidermolysis bullosa, localisata variant
 broad_synonym: COL17A1-RELATED CONDITION
 primary_id: OMIM:619787


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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: COL17A1-related condition | 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...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Genetic Skin Diseases 1850
          epidermolysis bullosa 94
            junctional epidermolysis bullosa 9
              junctional epidermolysis bullosa non-Herlitz type 6
                Junctional Epidermolysis Bullosa 4, Intermediate 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      junctional epidermolysis bullosa 9
                        junctional epidermolysis bullosa non-Herlitz type 6
                          Junctional Epidermolysis Bullosa 4, Intermediate 1
paths to the root