Pachyonychia congenita 3

Preferred Label : Pachyonychia congenita 3;

Symbol : PC3;

CISMeF acronym : PC3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 6A gene (KRT6A, 148041.0001);

Prefixed ID : #615726;

Details

Origin ID

615726;

UMLS CUI

C3714948;

Automatic exact mappings (from CISMeF team)
- BTG anti-proliferation factor 2 [HGNC gene]
- BTG2 wt Allele [NCIt concept]
- KRT6A wt Allele [NCIt concept]
- PC3 (body structure) [SNOMED CT concept]
- PCSK1 wt Allele [NCIt concept]
- chromobox 8 [HGNC gene]
- parvocellular oculomotor nucleus [UBERON concept]
- proprotein convertase subtilisin/kexin type 1 [ORDO Gene]
- proprotein convertase subtilisin/kexin type 1 [HGNC gene]
CISMeF manual mappings
- Pachyonychia congenita type III of Schafer-Brunauer (disorder) [SNOMED CT concept]
Genes related to phenotype
- Keratin 6a, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chapped lip [HPO term]
- Follicular hyperkeratosis [HPO term]
- Furrowed tongue [HPO term]
- Gingivitis [HPO term]
- Hyperhidrosis [HPO term]
- Nail dystrophy [HPO term]
- Onychogryposis of toenails [HPO term]
- Oral leukoplakia [HPO term]
- Palmar hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Plantar hyperkeratosis [HPO term]
ORDO concept(s)
- Pachyonychia congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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