Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is an X-linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS2 gene. 27663151 2016
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 GeneticVariation disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. 25683132 2015
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows. 20672378 2010
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. 18984066 2009
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. 18280351 2008
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) or Siemens-1 syndrome is a rare X-linked disease of unknown etiology affecting the skin and the eye. 12215835 2002
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). 9598732 1998
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE The disease loci for X-linked Retinoschisis (RS), Keratosis follicularis spinulosa decalvans (KFSD), and Coffin-Lowry syndrome (CLS) have been localized to the same, small region in Xp22 on the human X Chromosome (Chr). 9195994 1997
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. 1550124 1992
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.100 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. 1552542 1992