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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:keratosis pilaris atrophicans
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Accession:DOID:0080751 term browser browse the term
Definition:An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)
Synonyms:exact_synonym: KPA
 primary_id: OMIM:604093
For additional species annotation, visit the Alliance of Genome Resources.


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keratosis pilaris atrophicans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO OMIM NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked OMIM
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      skin disease 3782
        Skin Abnormalities 1076
          ichthyosis 68
            keratosis pilaris atrophicans 2
              atrophoderma vermiculata 0
              keratosis follicularis spinulosa decalvans + 1
              keratosis pilaris atrophicans faciei 0
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          skin disease 3782
            keratosis 147
              ichthyosis 68
                keratosis pilaris atrophicans 2
                  atrophoderma vermiculata 0
                  keratosis follicularis spinulosa decalvans + 1
                  keratosis pilaris atrophicans faciei 0
paths to the root