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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 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903 		JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903 		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 OMIM:308800 OMIM
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      skin disease 2711
        ichthyosis 61
          keratosis pilaris atrophicans 2
            atrophoderma vermiculata 1
            keratosis follicularis spinulosa decalvans + 1
            keratosis pilaris atrophicans faciei 0
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                keratosis pilaris atrophicans 2
                  atrophoderma vermiculata 1
                  keratosis follicularis spinulosa decalvans + 1
                  keratosis pilaris atrophicans faciei 0
paths to the root