Keratosis follicularis spinulosa decalvans, autosomal dominant

Preferred Label : Keratosis follicularis spinulosa decalvans, autosomal dominant;

Symbol : KFSD;

CISMeF acronym : KFSD;

Type : Phenotype or locus, molecular basis unknown;

Description : Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).;

Inheritance : Autosomal dominant;

Prefixed ID : %612843;

Details

Origin ID

612843;

UMLS CUI

C2748527;

Automatic exact mappings (from CISMeF team)
- SAT1 wt Allele [NCIt concept]
- autosomal dominant keratosis follicularis spinulosa decalvans [DO Concept]
- symbol withdrawn KFSD [HGNC gene]
Broader ORDO disease(s)
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
Currated CISMeF NLP mapping
- keratosis follicularis spinulosa decalvans, autosomal dominant [MeSH concept]
- keratosis follicularis spinulosa decalvans, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant keratosis follicularis spinulosa decalvans [DO Concept]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharitis [HPO term]
- Carious teeth [HPO term]
- Cataract [HPO term]
- Conjunctivitis [HPO term]
- Enamel hypoplasia [HPO term]
- Facial erythema [HPO term]
- Folliculitis [HPO term]
- Heterogeneous [HPO term]
- Keratitis [HPO term]
- Keratosis pilaris [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Perifollicular fibrosis [HPO term]
- Photophobia [HPO term]
- Scarring alopecia of scalp [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
ORDO concept(s)
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- keratosis follicularis spinulosa decalvans, autosomal dominant [MeSH Supplementary Concept]
- keratosis follicularis spinulosa decalvans, autosomal dominant [MeSH concept]

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