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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:X-linked keratosis follicularis spinulosa decalvans
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Accession:DOID:0080754 term browser browse the term
Definition:A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. (DO)
Synonyms:exact_synonym: KFSDX;   keratosis follicularis spinulosa decalvans;   keratosis follicularis spinulosa decalvans cum ophiasi
 primary_id: MESH:C536159
 alt_id: OMIM:308800
 xref: GARD:6829
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Genetic Skin Diseases 1551
          keratosis follicularis 4
            keratosis follicularis spinulosa decalvans 1
              X-linked keratosis follicularis spinulosa decalvans 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Skin Abnormalities 1055
              ichthyosis 65
                keratosis pilaris atrophicans 2
                  keratosis follicularis spinulosa decalvans 1
                    X-linked keratosis follicularis spinulosa decalvans 1
paths to the root