Pachyonychia congenita 1

Preferred Label : Pachyonychia congenita 1;

Symbol : PC1;

CISMeF acronym : PC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pachyonychia congenita, jadassohn-lewandowsky type; Jadassohn-lewandowsky syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 16 gene (KRT16, 148067.0001); Caused by mutation in the keratin 6A gene (KRT6A, 148041.0001);

Prefixed ID : #167200;

Details

Origin ID

167200;

UMLS CUI

C1706595;

Automatic exact mappings (from CISMeF team)
- Jadassohn-Lewandowsky syndrome [MedDRA LLT]
- KRT16 wt Allele [NCIt concept]
- Neuroendocrine Convertase 1 [NCIt concept]
- PC1 (body structure) [SNOMED CT concept]
- PCSK1 wt Allele [NCIt concept]
- Pachyonychia congenita syndrome (disorder) [SNOMED CT concept]
- Proprotein convertase 1 (substance) [SNOMED CT concept]
- pachyonychia congenita [DO Concept]
- pachyonychia congenita syndrome [SNOMED Notion]
- proprotein convertase subtilisin/kexin type 1 [ORDO Gene]
- proprotein convertase subtilisin/kexin type 1 [HGNC gene]
Broader ORDO disease(s)
- Pachyonychia congenita [ORDO Disease]
CISMeF manual mappings
- Jadassohn-Lewandowsky syndrome [PASCAL descriptor]
- pachyonychia congenita type I [Disease (Nov.)]
Currated CISMeF NLP mapping
- pachyonychia congenita, type 1 [MeSH concept]
Genes related to phenotype
- Keratin 16, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Follicular hyperkeratosis [HPO term]
- Heterogeneous [HPO term]
- Onychogryposis [HPO term]
- Onychogryposis [HPO term]
- Oral leukoplakia [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Pachyonychia congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jadassohn-Lewandowsky syndrome [PASCAL descriptor]
- Jadassohn-Lewandowsky syndrome [MedDRA LLT]
- pachyonychia congenita type I [Disease (Nov.)]
- pachyonychia congenita, type 1 [MeSH concept]
Validated automatic mappings to NTBT
- pachyonychia congenita [MeSH Descriptor]

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