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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:epidermolysis bullosa simplex with mottled pigmentation
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Accession:DOID:0111346 term browser browse the term
Definition:An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: EBS2F;   EBSMP;   epidermolysis bullosa simplex 2F with mottled pigmentation;   epidermolysis bullosa simplex-MP;   speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering;   speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
 primary_id: MESH:C535959
 alt_id: OMIM:131960
 xref: GARD:9737;   ORDO:79397
For additional species annotation, visit the Alliance of Genome Resources.


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epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation OMIM
ClinVar		 PMID:421361 PMID:2476664 PMID:6457621 PMID:8799157 PMID:9036937 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    sensory system disease 6549
      skin disease 3745
        Skin Abnormalities 1050
          epidermolysis bullosa 80
            epidermolysis bullosa simplex 67
              epidermolysis bullosa simplex with mottled pigmentation 1
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        sensory system disease 6549
          skin disease 3745
            dermatitis 463
              bullous skin disease 151
                vesiculobullous skin disease 138
                  epidermolysis bullosa 80
                    epidermolysis bullosa simplex 67
                      epidermolysis bullosa simplex with mottled pigmentation 1
paths to the root