Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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: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 17205
    sensory system disease 5611
      skin disease 2954
        ichthyosis 62
          keratosis pilaris atrophicans 2
            keratosis follicularis spinulosa decalvans 1
              X-linked keratosis follicularis spinulosa decalvans 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            Skin Abnormalities 766
              ichthyosis 62
                keratosis pilaris atrophicans 2
                  keratosis follicularis spinulosa decalvans 1
                    X-linked keratosis follicularis spinulosa decalvans 1
paths to the root