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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:Porokeratosis 9, Multiple Types
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Accession:DOID:9003076 term browser browse the term
Definition:Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene on chromosome 1q22 have been found to cause multiple types of porokeratosis (POROK9), which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). (OMIM)
Synonyms:exact_synonym: POROK9
 primary_id: OMIM:616631
 xref: MONDO:0014713


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Porokeratosis 9, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Porokeratosis 9, multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:26202976 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        keratosis 185
          porokeratosis 8
            Porokeratosis 9, Multiple Types 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                porokeratosis 8
                  Porokeratosis 9, Multiple Types 1
paths to the root