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X-linked keratosis follicularis spinulosa decalvans - Ontology Report - Rat Genome Database

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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 cum ophiasi
 primary_id: MESH:C536159
 alt_id: MIM:308800
 xref: GARD:6829

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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 N 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 chrNW_004624829:6,795,563...6,839,416
Ensembl chrNW_004624829:6,795,528...6,834,604 		JBrowse link
G 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:20,319,731...20,364,603
Ensembl chr  X:20,319,807...20,361,847 		JBrowse link
G P 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:18,013,360...18,054,250 JBrowse link
G S 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 chrNW_004936624:2,464,152...2,510,984
Ensembl chrNW_004936624:2,463,909...2,511,158 		JBrowse link
G D 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 B 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:14,470,268...14,529,854
Ensembl chr  X:21,825,780...21,883,550 		JBrowse link
G C 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 chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505 		JBrowse link
G R Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked		 OMIM
CTD
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G M Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked		 OMIM
CTD
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:156,330,818...156,381,711
Ensembl chr  X:156,318,367...156,381,711 		JBrowse link
G H MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP
EXP		 ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G N Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chrNW_004624829:6,811,644...6,815,253 JBrowse link
G G YY2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:20,337,022...20,338,701 JBrowse link
G S Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chrNW_004936624:2,487,983...2,489,630 JBrowse link
G D 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
G B YY2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:14,486,444...14,489,457
Ensembl chr  X:21,842,693...21,843,812 		JBrowse link
G R Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G M Yy2 Yy2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:156,349,115...156,351,981
Ensembl chr  X:156,349,115...156,351,981 		JBrowse link
G H YY2 YY2 transcription factor IAGP ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:21,855,987...21,858,740
Ensembl chr  X:21,855,987...21,858,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      skin disease 49602
        keratosis 2011
          keratosis follicularis 51
            keratosis follicularis spinulosa decalvans 18
              X-linked keratosis follicularis spinulosa decalvans 18
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              keratosis 2011
                ichthyosis 977
                  keratosis pilaris atrophicans 30
                    keratosis follicularis spinulosa decalvans 18
                      X-linked keratosis follicularis spinulosa decalvans 18
paths to the root