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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: EBSMP;   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;   RDO:0001349
 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:2476664 PMID:8799157 PMID:9129237 PMID:10494094 PMID:11167681 PMID:16882168 PMID:20030639 PMID:20108434 PMID:20923750 PMID:25741868 PMID:26743602 PMID:28561874 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      skin disease 2741
        Skin Abnormalities 628
          epidermolysis bullosa 58
            epidermolysis bullosa simplex 43
              epidermolysis bullosa simplex with mottled pigmentation 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            dermatitis 420
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    epidermolysis bullosa simplex 43
                      epidermolysis bullosa simplex with mottled pigmentation 1
paths to the root