Pachyonychia congenita 2

Preferred Label : Pachyonychia congenita 2;

Symbol : PC2;

CISMeF acronym : PC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pachyonychia congenita, jackson-lawler type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the keratin 17 gene (KRT17, 148069.0001); Caused by mutations in the keratin 6B gene (KRT6B, 148042.0001);

Prefixed ID : #167210;

Détails

Origin ID

167210;

UMLS CUI

C1721007;

Automatic exact mappings (from CISMeF team)
- CBX4 wt Allele [NCIt concept]
- E3 SUMO-Protein Ligase CBX4 [NCIt concept]
- KRT17 wt Allele [NCIt concept]
- KRT6B wt Allele [NCIt concept]
- PC2 (body structure) [SNOMED CT concept]
- Proprotein convertase 2 (substance) [SNOMED CT concept]
- chromobox 4 [HGNC gene]
- pachyonychia congenita [DO Concept]
- polycystin 2, transient receptor potential cation channel [ORDO Gene]
- polycystin 2, transient receptor potential cation channel [HGNC gene]
- proprotein convertase subtilisin/kexin type 2 [HGNC gene]
Broader ORDO disease(s)
- Pachyonychia congenita [ORDO Disease]
CISMeF manual mappings
- Pachyonychia congenita type II of Jackson-Lawler (disorder) [SNOMED CT concept]
- pachyonychia congenita type II [Disease (Nov.)]
Currated CISMeF NLP mapping
- Jackson Lawler pachyonychia [PASCAL descriptor]
- pachyonychia congenita, type 2 [MeSH concept]
Genes related to phenotype
- Keratin 17, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dry hair [HPO term]
- Epidermoid cyst [HPO term]
- Folliculitis [HPO term]
- Heterogeneous [HPO term]
- Hoarse voice [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Natal tooth [HPO term]
- Palmoplantar hyperhidrosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Steatocystoma multiplex [HPO term]
- Subungual hyperkeratosis [HPO term]
- dry, sparse scalp hair [HPO term]
Not associated HPO term(s)
- Oral leukoplakia [HPO term]
ORDO concept(s)
- Pachyonychia congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jackson Lawler pachyonychia [PASCAL descriptor]
- pachyonychia congenita type II [Disease (Nov.)]
- pachyonychia congenita, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- pachyonychia congenita [MeSH Descriptor]

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