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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 follicularis spinulosa decalvans
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Accession:DOID:0080753 term browser browse the term
Definition:A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. (DO)
Synonyms:xref: ORDO:2340


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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 PMID:25741868 NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288 		JBrowse link
G YY2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:17,672,528...17,676,552 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      skin disease 3751
        keratosis 177
          keratosis follicularis 5
            keratosis follicularis spinulosa decalvans 2
              X-linked keratosis follicularis spinulosa decalvans 2
              autosomal dominant keratosis follicularis spinulosa decalvans 0
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Skin Abnormalities 1281
                ichthyosis 88
                  keratosis pilaris atrophicans 3
                    keratosis follicularis spinulosa decalvans 2
                      X-linked keratosis follicularis spinulosa decalvans 2
                      autosomal dominant keratosis follicularis spinulosa decalvans 0
paths to the root